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.infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Norrie disease</th></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1415842?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>Norrie disease</b> is a rare X-linked recessive <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a> that primarily affects the <a href="/wiki/Human_eye" title="Human eye">eyes</a> and almost always leads to <a href="/wiki/Blindness" class="mw-redirect" title="Blindness">blindness</a>. It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudoglioma (NDP) gene.<sup id="cite_ref-:0_1-0" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Sims_2-0" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Norrie disease manifests with vision impairment either at birth, or within a few weeks of life, following an ocular event like retinal detachment and is progressive through childhood and adolescence. It generally begins with retinal degeneration, which occurs before birth and results in blindness at birth (congenital) or early infancy, usually by 3 months of age.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>Patients with Norrie disease may develop <a href="/wiki/Cataract" title="Cataract">cataracts</a>, <a href="/wiki/Leukocoria" title="Leukocoria">leukocoria</a> (where the <a href="/wiki/Pupil" title="Pupil">pupils</a> appear white when light is shone on them), along with other developmental issues in the eye, such as shrinking of the globe and the wasting away of the <a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">iris</a>.<sup id="cite_ref-Sims_2-1" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>In addition to the congenital ocular symptoms, the majority of individuals afflicted by this disease develop progressive hearing loss caused by vascular abnormalities in the <a href="/wiki/Cochlea" title="Cochlea">cochlea</a>. Hearing loss usually begins in early childhood and may be mild at first before becoming more progressive by the third or forth decade of life.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Halpin_5-0" class="reference"><a href="#cite_note-Halpin-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p><p>Roughly 30-50 percent of those affected by the disease might encounter cognitive challenges, <a href="/wiki/Intellectual_disability" title="Intellectual disability">learning difficulties</a>, <a href="/wiki/Spinocerebellar_ataxia" title="Spinocerebellar ataxia">incoordination of movements</a> or behavioral abnormalities.<sup id="cite_ref-Sims_2-2" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> These developmental delays often surpass those expected from their visual impairment alone. Additionally, behavioral issues such as psychosis, aggression, and cognitive decline may manifest in patients. Intellectual disabilities have been observed in 20-30% of cases, while dementia, though uncommon, can emerge in late adulthood. About 15% of patients are estimated to develop all the features of the disease.<sup id="cite_ref-Dickinson_6-0" class="reference"><a href="#cite_note-Dickinson-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>Due to the <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> pattern of inheritance, Norrie disease affects almost entirely males. Only in very rare cases, females have been diagnosed with Norrie disease; cases of symptomatic female carriers have been reported.<sup id="cite_ref-:1_7-0" class="reference"><a href="#cite_note-:1-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_8-0" class="reference"><a href="#cite_note-:2-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> It is a very rare disorder that is not associated with any specific ethnic or racial groups, with cases reported worldwide (including cases in North America, South America, Europe, Asia and Australasia).<sup id="cite_ref-:3_9-0" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> While more than 400 cases have been described, the prevalence and incidence of the disease still remains unknown.<sup id="cite_ref-ghr_13-0" class="reference"><a href="#cite_note-ghr-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Presentation">Presentation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=1" title="Edit section: Presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The most prominent symptoms initially observed in Norrie disease are ocular. Initial characteristics are usually identified at birth or in early infancy, with parents often noticing abnormal eye features or that their child fails to show a response to light.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> The first visible finding is <a href="/wiki/Leukocoria" title="Leukocoria">leukocoria</a>, a grayish-yellow pupillary reflection that originates from a mass of disorganized tissue behind the <a href="/wiki/Lens_(anatomy)" class="mw-redirect" title="Lens (anatomy)">lens</a>. This material, which possibly includes an already <a href="/wiki/Retinal_detachment" title="Retinal detachment">detached retina</a>, may be confused with a tumor and thus is termed <a href="/wiki/Pseudoglioma" class="mw-redirect" title="Pseudoglioma">pseudoglioma</a>.<sup id="cite_ref-Sims_2-3" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-ghr_13-1" class="reference"><a href="#cite_note-ghr-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> However, an affected baby may have a normally sized eye globe and unremarkable <a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">iris</a>, <a href="/wiki/Anterior_chamber" class="mw-redirect" title="Anterior chamber">anterior chamber</a>, <a href="/wiki/Cornea" title="Cornea">cornea</a> and <a href="/wiki/Intraocular_pressure" title="Intraocular pressure">intraocular pressure</a>. Over the first few months of life, complete or partial retinal detachment evolves. From infancy through childhood, the patient may undergo progressive changes in the disease.<sup id="cite_ref-Sims_2-4" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Disease progression often includes vitreoretinal hemorrhages, the formation of <a href="/wiki/Cataract" title="Cataract">cataracts</a>, deterioration of the iris with <a href="/wiki/Adhesion" title="Adhesion">adhesions</a> forming between the iris and the lens or the cornea, and shallowing of the <a href="/wiki/Anterior_chamber" class="mw-redirect" title="Anterior chamber">anterior chamber</a> which may increase intraocular pressure, causing eye pain.<sup id="cite_ref-Sims_2-5" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> As the situation worsens, there is corneal opacification, where the cornea becomes opaque, and band keratopathy. Intraocular pressure is lost and the globe shrinks. In the last stage of Norrie disease, the globes appear small and sunken in (<a href="/wiki/Phthisis_bulbi" title="Phthisis bulbi">phthisis bulbi</a>) and the cornea appears to be milky.<sup id="cite_ref-Sims_2-6" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>Auditory symptoms are common with Norrie disease. Progressive hearing loss has been reported to occur in 85–90% of patients and onset is generally in childhood and before the patient reaches their mid-20s.<sup id="cite_ref-:3_9-1" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:4_18-0" class="reference"><a href="#cite_note-:4-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Early hearing loss is <a href="/wiki/Sensorineural" class="mw-redirect" title="Sensorineural">sensorineural</a>, mild and asymmetric.<sup id="cite_ref-Sims_2-7" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> By adolescence, high-frequency hearing loss begins to appear. Hearing loss is severe, symmetric, and broad-spectrum by the age of 35 years. However, studies show that while hearing deteriorates, the ability to speak well is highly preserved.<sup id="cite_ref-Halpin_5-1" class="reference"><a href="#cite_note-Halpin-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> The slowly progressing hearing loss is more problematic to adjust to than the <a href="/wiki/Congenital" class="mw-redirect" title="Congenital">congenital</a> blindness for most people with Norrie disease.<sup id="cite_ref-Sims_2-8" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Additional_characteristics">Additional characteristics</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=2" title="Edit section: Additional characteristics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Individuals with Norrie disease can also have cognitive and behavioral symptoms. Developmental delay or learning difficulties are present in about 30 to 50% of males who have Norrie disease.<sup id="cite_ref-Sims_2-9" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Psycho-social disturbances and poorly characterized behavior abnormalities may also be present. In a study reporting extraocular manifestations in 56 patients with Norrie disease, conditions reported included cognitive impairment (28% of patients), behavioral issues, for example autism spectrum disorder (27% of patients presented with autism or autism-like disorders), neurological features, including seizure disorders and epilepsy (16% of patients reported seizures or seizure history), and peripheral vascular disease (38% of patients).<sup id="cite_ref-:3_9-2" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p><p>Additionally, children with visual impairment have been shown to struggle establishing regular sleep/wake cycles due to reduced light perception impacting on their understanding of night and day; this can impact on the individual's behavior, mood and cognitive ability.<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> Consistent with this, some case reports of Norrie disease patients have reported the presence of sleep disorders.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>Peripheral vascular disease (PVD) has also been associated with Norrie disease. In a study of 56 patients with Norrie disease, 21 patients (38%) reported PVD (including varicose veins, peripheral venous stasis ulcers and erectile dysfunction).<sup id="cite_ref-:3_9-3" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Due to the known role of the protein <a href="/wiki/Norrin" title="Norrin">norrin</a> in the vascular development of the eye and inner ear, as well as the association with PVD, norrin is thought to have an important angiogenic role in the body.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=3" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:X-linked_recessive.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/225px-X-linked_recessive.svg.png" decoding="async" width="225" height="342" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/338px-X-linked_recessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/450px-X-linked_recessive.svg.png 2x" data-file-width="600" data-file-height="911" /></a><figcaption>X-linked recessive inheritance.</figcaption></figure> <p>Norrie disease is a rare genetic disorder caused by <a href="/wiki/Mutation" title="Mutation">mutations</a> in the <i><a href="/wiki/NDP_(gene)" class="mw-redirect" title="NDP (gene)">NDP</a></i> gene, located on Xp11.4 (GeneID: 4693).<sup id="cite_ref-Gene_Information_22-0" class="reference"><a href="#cite_note-Gene_Information-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> It is inherited in an <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> manner. This means that almost only males are affected. Sons of affected men will not have the mutation, while all of their daughters will be <a href="/wiki/Genetic_carrier" class="mw-redirect" title="Genetic carrier">genetic carriers</a> of the mutation. Female carriers usually show no clinical symptoms, but will pass the mutation to 50% of their offspring. Daughters with the mutated gene will also be, like their mother, asymptomatic carriers, but 50% of their sons will express clinical symptoms.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Females are very unlikely to express clinical signs. However, there have been a few rare cases where females have shown symptoms associated with Norrie disease such as retinal abnormalities and mild hearing loss.<sup id="cite_ref-ghr_13-2" class="reference"><a href="#cite_note-ghr-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Additionally, cases of symptomatic female carriers have been reported.<sup id="cite_ref-:1_7-1" class="reference"><a href="#cite_note-:1-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_8-1" class="reference"><a href="#cite_note-:2-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> One possible scenario that could lead to a female case of Norrie disease is if both of their copies of the <i>NDP</i> gene bear mutations, which could be the case in <a href="/wiki/Consanguineous" class="mw-redirect" title="Consanguineous">consanguineous</a> families or due to a spontaneous <a href="/wiki/Mutation" title="Mutation">somatic mutation</a>. Another explanation for affected females could be skewed <a href="/wiki/X-inactivation" title="X-inactivation">X-chromosome inactivation</a>. In this latter case, carrier females with one mutated <i>NDP</i> allele could have a higher proportion of defective norrin being expressed, leading to the presentation of symptoms of Norrie disease.<sup id="cite_ref-:1_7-2" class="reference"><a href="#cite_note-:1-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:2_8-2" class="reference"><a href="#cite_note-:2-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="The_NDP_gene">The <i>NDP</i> gene</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=4" title="Edit section: The NDP gene"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Norrie disease is caused by a mutation in the <i>Norrin cystine knot growth factor</i> gene, also known as the Norrie disease (pseudoglioma) gene or <i><a href="/wiki/NDP_(gene)" class="mw-redirect" title="NDP (gene)">NDP</a></i> gene. Mutations could include splicing or mis-sense mutations, as well as partial or full gene deletion.<sup id="cite_ref-Sims_2-10" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> The normal function of the <i>NDP</i> gene is to produce the instructions for creating a protein called norrin. For the normal development of the eye and other body systems, norrin is believed to be crucial.<sup id="cite_ref-GeneticsHomeReference_23-0" class="reference"><a href="#cite_note-GeneticsHomeReference-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> Norrin also appears to be crucial in the specialization of the cells of the retina and the establishment of a blood supply to the <a href="/wiki/Inner_ear" title="Inner ear">inner ear</a> and the tissues of the retina. The role of norrin in the specialization of retinal cells for their unique sensory function is impeded by the mutation of <i>NDP</i>.<sup id="cite_ref-GeneticsHomeReference_23-1" class="reference"><a href="#cite_note-GeneticsHomeReference-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> This results in an accumulation of immature retinal cells in the back of the eye. When norrin's role in the establishment of <a href="/wiki/Blood_vessel" title="Blood vessel">blood vessels</a> supplying the eye is disrupted, the tissues cannot develop properly.<sup id="cite_ref-GeneticsHomeReference_23-2" class="reference"><a href="#cite_note-GeneticsHomeReference-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>Norrin is not only important in the development of the eye. The mutation of the <i>NDP</i> gene can affect other systems of the body as well. The most severe problems are caused by chromosomal deletions in the region of the <i>NDP</i> gene, causing the prevention of the gene product, or even that of the neighboring <a href="/wiki/Monoamine_oxidase" title="Monoamine oxidase"><i>MAO</i></a> genes. When the mutations simply change a single <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a> in norrin, the effects are less widespread and severe. However, the location and type of the <i>NDP</i> mutation does not necessarily determine the degree of severity of the disease, since highly varying clinical signs have been diagnosed in patients carrying exactly the same mutation. Therefore, the involvement of other modifying genes is very likely. On the other hand, if certain structurally important amino acids are changed (e.g. the <a href="/wiki/Cysteine" title="Cysteine">cysteines</a> forming the putative <a href="/wiki/Cystine_knot" title="Cystine knot">cystine knot</a>), the clinical outcome has been shown to be more serious.<sup id="cite_ref-Meitinger_24-0" class="reference"><a href="#cite_note-Meitinger-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=5" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Norrie disease and other <i>NDP</i> related diseases are diagnosed with the combination of clinical findings and molecular <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>. Molecular genetic testing identifies the mutations that cause the disease in about 95% of affected males.<sup id="cite_ref-Sims_2-11" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Clinical diagnoses rely on <a href="/wiki/Human_eye" title="Human eye">ocular</a> findings. Norrie disease is diagnosed when grayish-yellow fibrovascular masses are found behind the eye from birth through three months. Doctors also look for progression of the disease from three months through 8–10 years of age. Some of these progressions include cataracts, iris <a href="/wiki/Atrophy" title="Atrophy">atrophy</a>, shallowing of <a href="/wiki/Anterior_chamber" class="mw-redirect" title="Anterior chamber">anterior chamber</a>, and shrinking of the globe.<sup id="cite_ref-Sims_2-12" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Children with the condition either have only light perception or no vision at all.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>In addition to its use for initial diagnosis, molecular genetic testing is used to confirm <a href="/wiki/Diagnostic_testing" class="mw-redirect" title="Diagnostic testing">diagnostic testing</a> (such as diagnosis by ocular examination), for carrier testing females, <a href="/wiki/Prenatal" class="mw-redirect" title="Prenatal">prenatal</a> diagnosis, and preimplantation genetic diagnosis. There are three types of clinical molecular genetic testing. In approximately 95% of males, mis-sense and splice mutations of the NDP gene and partial or whole gene deletions are detected using sequence analysis.<sup id="cite_ref-Sims_2-13" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Deletion/duplication analysis can be used to detect the 15% of mutations that are <a href="/wiki/Submicroscopic" class="mw-redirect" title="Submicroscopic">submicroscopic</a> deletions. This is also used when testing for carrier females. The last testing used is <a href="/wiki/Linkage_analysis" class="mw-redirect" title="Linkage analysis">linkage analysis</a>, which is used when the first two types are unavailable. Linkage analysis is also recommended for those families who have more than one member affected by the disease.<sup id="cite_ref-Sims_2-14" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Magnetic_resonance_imaging" title="Magnetic resonance imaging">MRI</a> is often used to diagnose the <a href="/wiki/Retinal_dysplasia" title="Retinal dysplasia">retinal dysplasia</a> that occurs with the Norrie disease. However, the retinal dysplasia can be indistinguishable on MRI from <a href="/wiki/Persistent_fetal_vasculature" title="Persistent fetal vasculature">persistent fetal vasculature</a>, or the dysplasia of <a href="/wiki/Trisomy_13" class="mw-redirect" title="Trisomy 13">trisomy 13</a> and <a href="/wiki/Walker%E2%80%93Warburg_syndrome" title="Walker–Warburg syndrome">Walker–Warburg syndrome</a>.<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> </p><p>For families with an existing history of Norrie disease, genetic counselling and <i>in utero</i> diagnosis of Norrie disease may be considered.<sup id="cite_ref-:5_26-0" class="reference"><a href="#cite_note-:5-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> <i>In utero</i> diagnosis has been reported to include genetic testing by amniocentesis and ultrasonography to examine fetal eyes. Confirmation of diagnosis on the first day of life by ophthalmological examination under anesthesia has also been reported in some cases.<sup id="cite_ref-:5_26-1" class="reference"><a href="#cite_note-:5-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:6_27-0" class="reference"><a href="#cite_note-:6-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Management">Management</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=6" title="Edit section: Management"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Ocular, auditory and behavioral management are the most common areas of intervention and treatment for patients with Norrie disease. For ocular (eye) management, often patients already have complete retinal detachment at birth, or by the time of diagnosis, so surgical intervention is often not offered. However, there is some evidence for the benefit of early surgery or laser therapy for cases where retinal detachment is incomplete.<sup id="cite_ref-Sims_2-15" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:6_27-1" class="reference"><a href="#cite_note-:6-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> Surgery may also be used to treat increased intraocular pressure and in rare cases <a href="/wiki/Enucleation_of_the_eye" title="Enucleation of the eye">enucleation</a> (removal) of the eye is considered to control pain.<sup id="cite_ref-Sims_2-16" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>A high proportion (85–90%) of individuals with Norrie disease experience progressive hearing loss in their second decade of life. In most cases, use of hearing aids has been shown to be effective into middle or late adulthood. For more significantly impaired hearing, <a href="/wiki/Cochlear_implant" title="Cochlear implant">cochlear implants</a> may also be considered.<sup id="cite_ref-Sims_2-17" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_9-4" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:4_18-1" class="reference"><a href="#cite_note-:4-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p>30-50% of individuals with Norrie disease have been reported to present with developmental delay or cognitive impairment. Additionally, behavioral issues have also been reported. Supportive intervention and therapy, for example working with speech and language therapists and occupational therapists, can be used to maximize educational opportunities for these individuals.<sup id="cite_ref-Sims_2-18" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Furthermore, training of teachers and school counselors on how to best support children with vision and hearing impairment can be extremely beneficial.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Routine monitoring of individuals with Norrie disease is recommended to best manage the disease. This includes regular follow-up with an ophthalmologist, even when vision is severely compromised. Additionally, due to the high proportion of individuals with Norrie disease who develop hearing loss, regular monitoring of hearing loss is beneficial to allow any hearing loss to be detected early and then correctly managed.<sup id="cite_ref-Sims_2-19" class="reference"><a href="#cite_note-Sims-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> More recently, the use of dual sensory clinics has been proposed to provide improved care to patients living with conditions such as Norrie disease. For example, <a href="/wiki/Great_Ormond_Street_Hospital" title="Great Ormond Street Hospital">Great Ormond Street Hospital</a> (GOSH), London are building a new Sight and Sound center, with the aim of improving the patient experience for individuals with conditions such as Norrie disease.<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> The benefits of dual sensory clinics include improved communication between the different health care professionals (HCPs) involved in management of Norrie disease (e.g. ophthalmologists and audiologists) as well as allowing more consistent training of staff on best practices for managing and interacting with individuals with sensory impairment.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Individuals with Norrie disease can often feel isolated from society due to difficulties in communication. In cases where hearing loss is also experienced, this psychological burden has been shown to increase. For example, a number of Norrie disease patients have been reported to experience transient depression correlating with the onset of hearing loss.<sup id="cite_ref-:3_9-5" class="reference"><a href="#cite_note-:3-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Because of this, the provision of emotional support to individuals with Norrie disease can be as important as clinical treatment strategies in terms of improving their quality of life and reducing disease burden.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=7" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Research into understanding Norrie disease and how to improve the lives of those with Norrie disease is ongoing. For example, research is taking place at Great Ormond Street Institute of Child Health, University College London (UCL GOSICH) to study the developmental changes in the ear and eye in Norrie disease, with the hope to understand how to improve current treatment strategies.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> The group at UCL GOSICH is focusing particularly on the hearing loss aspect of the disease, and whether it might be possible to treat by gene therapy.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=8" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In 1961, a Danish <a href="/wiki/Ophthalmologist" class="mw-redirect" title="Ophthalmologist">ophthalmologist</a> named Mette Warburg reported on a Danish family that showed seven cases of a <a href="/wiki/Hereditary" class="mw-redirect" title="Hereditary">hereditary</a> degenerative disease throughout seven generations. The first member of the family to be thoroughly studied was a 12-month-old boy. At the child's examination at three months, it was noticed that he was normal except that his lens appeared to be opaque and his irises were deteriorating.<sup id="cite_ref-Warburg,_M_31-0" class="reference"><a href="#cite_note-Warburg,_M-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> The area behind his lens was filled with a growing yellowish mass. Five months later, his left eye was removed due to suspicion of <a href="/wiki/Retinoblastoma" title="Retinoblastoma">retinoblastoma</a>, a cancerous tumor on the retina. A <a href="/wiki/Histology" title="Histology">histologic</a> examination showed a hemorrhagic <a href="/wiki/Necrotic" class="mw-redirect" title="Necrotic">necrotic</a> mass in the <a href="/wiki/Posterior_chamber" class="mw-redirect" title="Posterior chamber">posterior chamber</a>, surrounded by undifferentiated (immature, undeveloped) <a href="/wiki/Glia" title="Glia">glial</a> tissue. The diagnosis included a pseudotumor of the retina, <a href="/wiki/Hyperplasia" title="Hyperplasia">hyperplasia</a> of retinal, ciliary, and iris pigment <a href="/wiki/Epithelium" title="Epithelium">epithelium</a>, <a href="/wiki/Hypoplasia" title="Hypoplasia">hypoplasia</a> and necrosis of the inner layer of the retina, cataract, and <a href="/wiki/Phthisis_bulbi" title="Phthisis bulbi">phthisis bulbi</a>. The physician had suspected a tumor, although it emerged that it was a developmental defect that led to the malformation of inner parts of the eye. Because the eye was not functional, cells had already begun to die (necrosis) and the eye globe began to shrink due to its dysfunction (phthisi bulbi). In this Danish family, five of the seven people in these cases developed deafness later in life. Also, in four of the seven, mental capacity was determined to be low. After Warburg researched literature under various medical categories, she discovered 48 similar cases which she believed were caused by this disease as well.<sup id="cite_ref-Warburg,_M_31-1" class="reference"><a href="#cite_note-Warburg,_M-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> She then suggested this disease be named after another famous Danish ophthalmologist, <a href="/wiki/Gordon_Norrie" title="Gordon Norrie">Gordon Norrie</a> (1855–1941). Norrie was greatly recognized for his work with the blind and for being a surgeon at the Danish Institute for the Blind for 35 years.<sup id="cite_ref-32" class="reference"><a href="#cite_note-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> The <i>NDP</i> gene was previously named the “Norrie disease (pseudoglioma)” gene, which is still used widely when referring to <i>NDP</i>. However, the current approved name for <i>NDP</i> is “Norrin cystine knot growth factor”.<sup id="cite_ref-:0_1-1" class="reference"><a href="#cite_note-:0-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Culture">Culture</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=9" title="Edit section: Culture"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There are two patient organizations for people affected by Norrie disease. The Norrie Disease Association (NDA) was founded in 1994 and is a US-based non-profit organization aiming to provide information and support to people living with Norrie disease and their families. The NDA holds a conference on Norrie disease every three years in Boston, US. The Norrie Disease Foundation (NDF) is a UK-based charity established in 2016. The main aims of NDF are to provide support for families and promote pioneering research into Norrie disease. They organize two family days a year where families with Norrie disease can come together to share experiences, meet each other and build relationships and supportive networks. The websites for both patient organizations contain useful information for patients and their families about the disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=10" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-:0-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-:0_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:0_1-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7678">"Symbol Report for NDP"</a><span class="reference-accessdate">. Retrieved <span class="nowrap">23 January</span> 2020</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Symbol+Report+for+NDP&rft_id=https%3A%2F%2Fwww.genenames.org%2Fdata%2Fgene-symbol-report%2F%23%21%2Fhgnc_id%2FHGNC%3A7678&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-Sims-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-Sims_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Sims_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Sims_2-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-Sims_2-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-Sims_2-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-Sims_2-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-Sims_2-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-Sims_2-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-Sims_2-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-Sims_2-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-Sims_2-10"><sup><i><b>k</b></i></sup></a> <a href="#cite_ref-Sims_2-11"><sup><i><b>l</b></i></sup></a> <a href="#cite_ref-Sims_2-12"><sup><i><b>m</b></i></sup></a> <a href="#cite_ref-Sims_2-13"><sup><i><b>n</b></i></sup></a> <a href="#cite_ref-Sims_2-14"><sup><i><b>o</b></i></sup></a> <a href="#cite_ref-Sims_2-15"><sup><i><b>p</b></i></sup></a> <a href="#cite_ref-Sims_2-16"><sup><i><b>q</b></i></sup></a> <a href="#cite_ref-Sims_2-17"><sup><i><b>r</b></i></sup></a> <a href="#cite_ref-Sims_2-18"><sup><i><b>s</b></i></sup></a> <a href="#cite_ref-Sims_2-19"><sup><i><b>t</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSims1993" class="citation book cs1">Sims K (1993). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1331/">"NDP-Related Retinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY"</a>. <i>NDP-Related Retinopathies</i>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301506">20301506</a><span class="reference-accessdate">. Retrieved <span class="nowrap">28 January</span> 2007</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=NDP-Related+Retinopathies+%E2%80%93+RETIRED+CHAPTER%2C+FOR+HISTORICAL+REFERENCE+ONLY&rft.btitle=NDP-Related+Retinopathies&rft.pub=University+of+Washington%2C+Seattle&rft.date=1993&rft_id=info%3Apmid%2F20301506&rft.aulast=Sims&rft.aufirst=Katherine&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1331%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span> <span class="cs1-visible-error citation-comment"><code class="cs1-code">{{<a href="/wiki/Template:Cite_book" title="Template:Cite book">cite book</a>}}</code>: </span><span class="cs1-visible-error citation-comment"><code class="cs1-code">|journal=</code> ignored (<a href="/wiki/Help:CS1_errors#periodical_ignored" title="Help:CS1 errors">help</a>)</span></span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/norrie-disease/">"Norrie Disease"</a>. <i>National Organization for Rare Disorders</i><span class="reference-accessdate">. Retrieved <span class="nowrap">29 February</span> 2024</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=National+Organization+for+Rare+Disorders&rft.atitle=Norrie+Disease&rft_id=https%3A%2F%2Frarediseases.org%2Frare-diseases%2Fnorrie-disease%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-4">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/norrie-disease/">"Norrie Disease"</a>. <i>National Organization for Rare Disorders</i><span class="reference-accessdate">. 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class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFChowKiernanChauBlair2010" class="citation journal cs1">Chow CC, Kiernan DF, Chau FY, Blair MP, Ticho BH, Galasso JM, Shapiro MJ (December 2010). <a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ophtha.2010.03.057">"Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis"</a>. <i>Ophthalmology</i>. <b>117</b> (12): 2402–6. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ophtha.2010.03.057">10.1016/j.ophtha.2010.03.057</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20619898">20619898</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Ophthalmology&rft.atitle=Laser+photocoagulation+at+birth+prevents+blindness+in+Norrie%27s+disease+diagnosed+using+amniocentesis&rft.volume=117&rft.issue=12&rft.pages=2402-6&rft.date=2010-12&rft_id=info%3Adoi%2F10.1016%2Fj.ophtha.2010.03.057&rft_id=info%3Apmid%2F20619898&rft.aulast=Chow&rft.aufirst=CC&rft.au=Kiernan%2C+DF&rft.au=Chau%2C+FY&rft.au=Blair%2C+MP&rft.au=Ticho%2C+BH&rft.au=Galasso%2C+JM&rft.au=Shapiro%2C+MJ&rft_id=https%3A%2F%2Fdoi.org%2F10.1016%252Fj.ophtha.2010.03.057&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-28"><span class="mw-cite-backlink"><b><a href="#cite_ref-28">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWalshDrenserCaponeTrese2010" class="citation journal cs1">Walsh MK, Drenser KA, Capone A, Trese MT (April 2010). <a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchophthalmol.2009.403">"Early vitrectomy effective for Norrie disease"</a>. <i>Archives of Ophthalmology</i>. <b>128</b> (4): 456–60. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchophthalmol.2009.403">10.1001/archophthalmol.2009.403</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20385941">20385941</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Archives+of+Ophthalmology&rft.atitle=Early+vitrectomy+effective+for+Norrie+disease&rft.volume=128&rft.issue=4&rft.pages=456-60&rft.date=2010-04&rft_id=info%3Adoi%2F10.1001%2Farchophthalmol.2009.403&rft_id=info%3Apmid%2F20385941&rft.aulast=Walsh&rft.aufirst=MK&rft.au=Drenser%2C+KA&rft.au=Capone%2C+A&rft.au=Trese%2C+MT&rft_id=https%3A%2F%2Fdoi.org%2F10.1001%252Farchophthalmol.2009.403&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-29"><span class="mw-cite-backlink"><b><a href="#cite_ref-29">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.natsip.org.uk/3661-calling-uk-norrie-families-dual-sensory-clinics-for-children-and-young-people-up-to-18-yrs">"National Sensory Impairment Partnership. Calling UK Norrie families - Dual Sensory Clinics for children and young people up to 18 yrs"</a>. 2019<span class="reference-accessdate">. Retrieved <span class="nowrap">21 January</span> 2020</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=National+Sensory+Impairment+Partnership.+Calling+UK+Norrie+families+-+Dual+Sensory+Clinics+for+children+and+young+people+up+to+18+yrs.&rft.date=2019&rft_id=https%3A%2F%2Fwww.natsip.org.uk%2F3661-calling-uk-norrie-families-dual-sensory-clinics-for-children-and-young-people-up-to-18-yrs&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-30"><span class="mw-cite-backlink"><b><a href="#cite_ref-30">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20200127111238/https://norriedisease.org.uk/news/nd-research-project-great-ormond-street/">"Norrie Disease Foundation. Research"</a>. 2017-10-31. Archived from <a rel="nofollow" class="external text" href="https://norriedisease.org.uk/news/nd-research-project-great-ormond-street/">the original</a> on 2020-01-27<span class="reference-accessdate">. Retrieved <span class="nowrap">23 January</span> 2020</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Norrie+Disease+Foundation.+Research&rft.date=2017-10-31&rft_id=https%3A%2F%2Fnorriedisease.org.uk%2Fnews%2Fnd-research-project-great-ormond-street%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-Warburg,_M-31"><span class="mw-cite-backlink">^ <a href="#cite_ref-Warburg,_M_31-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Warburg,_M_31-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWarburg_M1961" class="citation journal cs1">Warburg M (1961). "Norrie's disease: a new hereditary bilateral pseudotumour of the retina". <i>Acta Ophthalmol</i>. <b>39</b> (5): 757–772. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fj.1755-3768.1961.tb07740.x">10.1111/j.1755-3768.1961.tb07740.x</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:2525905">2525905</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Acta+Ophthalmol.&rft.atitle=Norrie%27s+disease%3A+a+new+hereditary+bilateral+pseudotumour+of+the+retina&rft.volume=39&rft.issue=5&rft.pages=757-772&rft.date=1961&rft_id=info%3Adoi%2F10.1111%2Fj.1755-3768.1961.tb07740.x&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A2525905%23id-name%3DS2CID&rft.au=Warburg+M&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANorrie+disease" class="Z3988"></span></span> </li> <li id="cite_note-32"><span class="mw-cite-backlink"><b><a href="#cite_ref-32">^</a></b></span> <span class="reference-text"><i><a rel="nofollow" class="external text" href="http://www.whonamedit.com/doctor.cfm/421.html">Gordon Norrie</a></i> at <a href="/wiki/Who_Named_It%3F" class="mw-redirect" title="Who Named It?">Who Named It?</a>. Retrieved 13 February 2007.</span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Norrie_disease&action=edit&section=11" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=norrie/">NCBI Genetic Testing Registry</a></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output 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ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1415842" class="extiw" title="d:Q1415842">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/Q15.8">Q15.8</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=743.8">743.8</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/310600">310600</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=C537849,">C537849 C537849, C537849</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb31165.htm">31165</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649">649</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link 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navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Eyelid" title="Eyelid">Eyelid</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ptosis_(eyelid)" title="Ptosis (eyelid)">Ptosis</a></li> <li><a href="/wiki/Ectropion" title="Ectropion">Ectropion</a></li> <li><a href="/wiki/Entropion" title="Entropion">Entropion</a></li> <li><a href="/wiki/Distichia" title="Distichia">Distichia</a></li> <li><a href="/wiki/Blepharophimosis" title="Blepharophimosis">Blepharophimosis</a></li> <li><a href="/wiki/Ablepharon_macrostomia_syndrome" title="Ablepharon macrostomia syndrome">Ablepharon</a></li> <li><a href="/wiki/Marcus_Gunn_phenomenon" title="Marcus Gunn phenomenon">Marcus Gunn phenomenon</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lacrimal_apparatus" title="Lacrimal apparatus">Lacrimal apparatus</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Nasolacrimal_duct_obstruction#Congenital" title="Nasolacrimal duct obstruction">Congenital lacrimal duct obstruction</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Globe_(human_eye)" title="Globe (human eye)">Globe</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Entire eye</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Anophthalmia" title="Anophthalmia">Anophthalmia</a> (<a href="/wiki/Cystic_eyeball" title="Cystic eyeball">Cystic eyeball</a>, <a href="/wiki/Cryptophthalmos" title="Cryptophthalmos">Cryptophthalmos</a>)</li> <li><a href="/wiki/Microphthalmia" title="Microphthalmia">Microphthalmia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lens_(anatomy)" class="mw-redirect" title="Lens (anatomy)">Lens</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ectopia_lentis" title="Ectopia lentis">Ectopia lentis</a></li> <li><a href="/wiki/Aphakia" title="Aphakia">Aphakia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Iris_(anatomy)" title="Iris (anatomy)">Iris</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Aniridia" title="Aniridia">Aniridia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anterior_segment_of_eyeball" title="Anterior segment of eyeball">Anterior segment</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Axenfeld%E2%80%93Rieger_syndrome" title="Axenfeld–Rieger syndrome">Axenfeld–Rieger syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cornea" title="Cornea">Cornea</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Keratoglobus" title="Keratoglobus">Keratoglobus</a></li> <li><a href="/wiki/Megalocornea" title="Megalocornea">Megalocornea</a></li> <li><a href="/wiki/Cornea_plana_1" title="Cornea plana 1">Cornea plana 1</a></li> <li><a href="/wiki/Cornea_plana_2" title="Cornea plana 2">Cornea plana 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Retina" title="Retina">Retina</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Megalopapilla" title="Megalopapilla">Megalopapilla</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Buphthalmos" title="Buphthalmos">Buphthalmos</a></li> <li><a href="/wiki/Coloboma" title="Coloboma">Coloboma</a> (<a href="/wiki/Coloboma_of_optic_nerve" title="Coloboma of optic nerve">Coloboma of optic nerve</a>)</li> <li><a href="/wiki/Primary_juvenile_glaucoma" title="Primary juvenile glaucoma">Hydrophthalmos</a></li> <li><a class="mw-selflink selflink">Norrie disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="X-linked_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:X-linked_disorders" title="Template:X-linked disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:X-linked_disorders" title="Template talk:X-linked disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:X-linked_disorders" title="Special:EditPage/Template:X-linked disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="X-linked_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> disorders</div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_recessive" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immune_disorder" title="Immune disorder">Immune</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Chronic_granulomatous_disease" title="Chronic granulomatous disease">Chronic granulomatous disease (CYBB)</a></li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></li> <li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></li> <li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li> <li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">X-linked lymphoproliferative disease</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Hematologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Haemophilia_A" title="Haemophilia A">Haemophilia A</a></li> <li><a href="/wiki/Haemophilia_B" title="Haemophilia B">Haemophilia B</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">X-linked sideroblastic anemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrine</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a>/<a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Spinal and bulbar muscular atrophy</a></li> <li><a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL1 Kallmann syndrome</a></li> <li><a href="/wiki/X-linked_adrenal_hypoplasia_congenita" title="X-linked adrenal hypoplasia congenita">X-linked adrenal hypoplasia congenita</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_disorder" title="Metabolic disorder">Metabolic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Congenital_disorders_of_amino_acid_metabolism" title="Congenital disorders of amino acid metabolism">Amino acid</a>:</i> <a href="/wiki/Ornithine_transcarbamylase_deficiency" title="Ornithine transcarbamylase deficiency">Ornithine transcarbamylase deficiency</a></li> <li><a href="/wiki/Oculocerebrorenal_syndrome" title="Oculocerebrorenal syndrome">Oculocerebrorenal syndrome</a></li></ul> <ul><li><i><a href="/wiki/Dyslipidemia" title="Dyslipidemia">Dyslipidemia</a>:</i> <a href="/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy">Adrenoleukodystrophy</a></li></ul> <ul><li><i><a href="/wiki/Carbohydrate_metabolism" title="Carbohydrate metabolism">Carbohydrate metabolism</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Pyruvate_dehydrogenase_deficiency" title="Pyruvate dehydrogenase deficiency">Pyruvate dehydrogenase deficiency</a></li> <li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease/glycogen storage disease Type IIb</a></li></ul> <ul><li><i><a href="/wiki/Lipid_storage_disorder" title="Lipid storage disorder">Lipid storage disorder</a></i>: <a href="/wiki/Fabry_disease" title="Fabry disease">Fabry disease</a></li></ul> <ul><li><i><a href="/wiki/Mucopolysaccharidosis" title="Mucopolysaccharidosis">Mucopolysaccharidosis</a>:</i> <a href="/wiki/Hunter_syndrome" title="Hunter syndrome">Hunter syndrome</a></li></ul> <ul><li><i><a href="/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Inborn errors of purine–pyrimidine metabolism">Purine–pyrimidine metabolism</a>:</i> <a href="/wiki/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a></li></ul> <ul><li><i><a href="/wiki/Mineral_(nutrient)" title="Mineral (nutrient)">Mineral</a>:</i> <a href="/wiki/Menkes_disease" title="Menkes disease">Menkes disease</a>/<a href="/wiki/Occipital_horn_syndrome" title="Occipital horn syndrome">Occipital horn syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nervous_system_disease" title="Nervous system disease">Nervous system</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability</a>:</i> <a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin–Lowry syndrome</a></li> <li><a href="/wiki/MASA_syndrome" title="MASA syndrome">MASA syndrome</a></li> <li><a href="/wiki/Alpha-thalassemia_mental_retardation_syndrome" class="mw-redirect" title="Alpha-thalassemia mental retardation syndrome">Alpha-thalassemia mental retardation syndrome</a></li> <li><a href="/wiki/PHF8" title="PHF8">PHF8</a></li></ul> <ul><li><i>Eye disorders:</i> <a href="/wiki/Color_blindness#Genetic_modes_of_inheritance" title="Color blindness">Color blindness (red and green, but not blue)</a></li> <li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism</a> (<a href="/wiki/Ocular_albinism_type_1" title="Ocular albinism type 1">1</a>)</li> <li><a class="mw-selflink selflink">Norrie disease</a></li> <li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li></ul> <ul><li><i>Other:</i> <a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease (CMTX2-3)</a></li> <li><a href="/wiki/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/X-linked_spinal_muscular_atrophy_type_2" title="X-linked spinal muscular atrophy type 2">SMAX2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Skin_condition" title="Skin condition">Skin</a> and related tissue</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dyskeratosis_congenita" title="Dyskeratosis congenita">Dyskeratosis congenita</a></li> <li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia (EDA)</a></li> <li><a href="/wiki/X-linked_ichthyosis" title="X-linked ichthyosis">X-linked ichthyosis</a></li> <li><a href="/wiki/X-linked_endothelial_corneal_dystrophy" title="X-linked endothelial corneal dystrophy">X-linked endothelial corneal dystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">Neuromuscular</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Becker_muscular_dystrophy" title="Becker muscular dystrophy">Becker muscular dystrophy</a>/<a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li> <li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">Centronuclear myopathy (MTM1)</a></li> <li><a href="/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome" title="Conradi–Hünermann syndrome">Conradi–Hünermann syndrome</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss muscular dystrophy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Urologic_disease" title="Urologic disease">Urologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li> <li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li> <li><a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">X-linked nephrogenic diabetes insipidus</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Bone" title="Bone">Bone</a>/<a href="/wiki/Tooth" title="Tooth">tooth</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Amelogenesis_imperfecta" title="Amelogenesis imperfecta">AMELX Amelogenesis imperfecta</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">No primary system</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barth_syndrome" title="Barth syndrome">Barth syndrome</a></li> <li><a href="/wiki/McLeod_syndrome" title="McLeod syndrome">McLeod syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Fineman%E2%80%93Myers_syndrome" title="Smith–Fineman–Myers syndrome">Smith–Fineman–Myers syndrome</a></li> <li><a href="/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome" title="Simpson–Golabi–Behmel syndrome">Simpson–Golabi–Behmel syndrome</a></li> <li><a href="/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome" title="Mohr–Tranebjærg syndrome">Mohr–Tranebjærg syndrome</a></li> <li><a href="/wiki/Nasodigitoacoustic_syndrome" title="Nasodigitoacoustic syndrome">Nasodigitoacoustic syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_dominant" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked dominant</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist ;" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_hypophosphatemia" title="X-linked hypophosphatemia">X-linked hypophosphatemia</a></li> <li><a href="/wiki/Focal_dermal_hypoplasia" title="Focal dermal hypoplasia">Focal dermal hypoplasia</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Aicardi_syndrome" title="Aicardi syndrome">Aicardi syndrome</a></li> <li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/CHILD_syndrome" title="CHILD syndrome">CHILD syndrome</a></li> <li><a href="/wiki/Lujan%E2%80%93Fryns_syndrome" title="Lujan–Fryns syndrome">Lujan–Fryns syndrome</a></li> <li><a href="/wiki/Orofaciodigital_syndrome_1" title="Orofaciodigital syndrome 1">Orofaciodigital syndrome 1</a></li> <li><a href="/wiki/Craniofrontonasal_dysplasia" title="Craniofrontonasal dysplasia">Craniofrontonasal dysplasia</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox authority-control" aria-label="Navbox" style="padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Help:Authority_control" title="Help:Authority control">Authority control databases</a>: National <span class="mw-valign-text-top noprint" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1415842#identifiers" title="Edit this at Wikidata"><img alt="Edit this at Wikidata" 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