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<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="GLawcz8Qv0bbdonYVb5ZfJ_rJhMluI7K7eIMvcE70CsWgd667UGSdWf96QSteMYuY0sPTMMnG6xdlgJ-g0f01w" /> <meta name="citation_title" content="Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia" /> <meta name="citation_publication_date" content="2024/01/18" /> <meta name="citation_journal_title" content="Journal of Translational Medicine" /> <meta name="citation_author" content="Qingjiong Zhang" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia" /> <meta name="twitter:title" content="Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia" /> <meta name="twitter:description" content="Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in" /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia" /> <meta property="og:title" content="Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in" /> <meta property="article:author" content="https://independent.academia.edu/QingjiongZhang" /> <meta name="description" content="Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in" /> <title>(PDF) Genetic Insights into Unilateral High Myopia</title> <link rel="canonical" href="https://www.academia.edu/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 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window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":126098736,"created_at":"2024-12-05T17:12:00.267-08:00","from_world_paper_id":261612017,"updated_at":"2025-01-31T15:01:33.354-08:00","_data":{"publisher":"BioMed Central","ai_title_tag":"Genetic Insights into Unilateral High Myopia","grobid_abstract":"Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.","publication_date":"2024,1,18","publication_name":"Journal of Translational Medicine","grobid_abstract_attachment_id":"120028312"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [45139348]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "control"; window.loswp.useOptimizedScribd4genScript = false; window.loginModal = {}; window.loginModal.appleClientId = 'edu.academia.applesignon'; window.userInChina = "false";</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":120028312,"attachmentType":"pdf"}"><img alt="First page of “Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/120028312/mini_magick20241206-1-dhu79k.png?1733447523" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/images/single_work_splash/adobe_icon.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang"><img alt="Profile image of Qingjiong Zhang" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Qingjiong Zhang</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2024, Journal of Translational Medicine</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">18 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 126098736; 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if (!viewCountBody) { throw new Error('Failed to find work views element'); } viewCountBody.textContent = `${commaizedViewCount} views`; } catch (error) { // Remove the whole views element if there was some issue parsing. document.getElementById('work-metadata-view-count')?.parentNode?.remove(); throw new Error(`Failed to parse view count: ${viewCount}`, error); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><p class="ds-work-card--work-abstract ds-work-card--detail ds2-5-body-md">Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.</p><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":120028312,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":120028312,"attachmentType":"pdf","workUrl":"https://www.academia.edu/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div><div class="ds-signup-banner-trigger-container"><div class="ds-signup-banner-trigger ds-signup-banner-trigger-control"></div></div><div class="ds-signup-banner ds-signup-banner-control"><div id="ds-signup-banner-close-button"><button class="ds2-5-button ds2-5-button--secondary ds2-5-button--inverse"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">close</span></button></div><div class="ds-signup-banner-ctas"><img src="//a.academia-assets.com/images/academia-logo-capital-white.svg" /><h4 class="ds2-5-heading-serif-sm">Sign up for access to the world's latest research</h4><button class="ds2-5-button ds2-5-button--inverse ds2-5-button--full-width js-swp-download-button" data-signup-modal="{"location":"signup-banner"}">Sign up for free<span class="material-symbols-outlined" style="font-size: 20px" translate="no">arrow_forward</span></button></div><div class="ds-signup-banner-divider"></div><div class="ds-signup-banner-reasons"><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Get notified about relevant papers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Save papers to use in your research</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Join the discussion with peers</span></div><div class="ds-signup-banner-reasons-item"><span class="material-symbols-outlined" style="font-size: 24px" translate="no">check</span><span>Track your impact</span></div></div></div><script>(() => { // Set up signup banner show/hide behavior: // 1. 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In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy. We ...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study","attachmentId":85848703,"attachmentType":"pdf","work_url":"https://www.academia.edu/78969556/Next_Generation_Sequencing_Screening_of_43_Families_with_Non_Syndromic_Early_Onset_High_Myopia_A_Clinical_and_Genetic_Study","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/78969556/Next_Generation_Sequencing_Screening_of_43_Families_with_Non_Syndromic_Early_Onset_High_Myopia_A_Clinical_and_Genetic_Study"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="77512303" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/77512303/Exome_Sequencing_on_298_Probands_With_Early_Onset_High_Myopia_Approximately_One_Fourth_Show_Potential_Pathogenic_Mutations_in_RetNet_Genes">Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><p class="ds-related-work--abstract ds2-5-body-sm">To investigate mutations in 234 genes associated with retinal dystrophies in a cohort of 298 probands with early-onset high myopia using whole exome sequencing. Genomic DNA from 298 probands with early-onset high myopia was analyzed by whole exome sequencing. Variants from 234 genes were selected and analyzed by multistep bioinformatics analyses. Systematic analysis of variants in the 234 genes identified potential pathogenic mutations in 34 of 234 genes in 71 of 298 (23.8%) probands. Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR. Initial clinical records of the 71 patients with mutations did not show recognizable signs of original diseases other than high myopia. Mutations in genes known to be responsible for retinal diseases were found in approximately one-fourth of the probands with early-onset high myopia. The high m...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes","attachmentId":84859733,"attachmentType":"pdf","work_url":"https://www.academia.edu/77512303/Exome_Sequencing_on_298_Probands_With_Early_Onset_High_Myopia_Approximately_One_Fourth_Show_Potential_Pathogenic_Mutations_in_RetNet_Genes","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/77512303/Exome_Sequencing_on_298_Probands_With_Early_Onset_High_Myopia_Approximately_One_Fourth_Show_Potential_Pathogenic_Mutations_in_RetNet_Genes"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="96715803" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/96715803/Whole_exome_sequence_analysis_in_51_624_participants_identifies_novel_genes_and_variants_associated_with_refractive_error_and_myopia">Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="151975719" href="https://ustc.academia.edu/jiangtiancui">jiangtian cui</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Molecular Genetics, 2022</p><p class="ds-related-work--abstract ds2-5-body-sm">Refractive errors are associated with a range of pathological conditions, such as myopic maculopathy and glaucoma, and are highly heritable. Studies of missense and putative loss of function (pLOF) variants identified via whole exome sequencing (WES) offer the prospect of directly implicating potentially causative disease genes. We performed a genome-wide association study for refractive error in 51 624 unrelated adults, of European ancestry, aged 40–69 years from the UK and genotyped using WES. After testing 29 179 pLOF and 495 263 missense variants, 1 pLOF and 18 missense variants in 14 distinct genomic regions were taken forward for fine-mapping analysis. This yielded 19 putative causal variants of which 18 had a posterior inclusion probability &gt;0.5. Of the 19 putative causal variants, 12 were novel discoveries. Specific variants were associated with a more myopic refractive error, while others were associated with a more hyperopic refractive error. Association with age of ons...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia","attachmentId":98537121,"attachmentType":"pdf","work_url":"https://www.academia.edu/96715803/Whole_exome_sequence_analysis_in_51_624_participants_identifies_novel_genes_and_variants_associated_with_refractive_error_and_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/96715803/Whole_exome_sequence_analysis_in_51_624_participants_identifies_novel_genes_and_variants_associated_with_refractive_error_and_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="125157077" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/125157077/Whole_Exome_Sequencing_of_21_Families_Candidate_Genes_for_Early_Onset_High_Myopia">Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="37087965" href="https://independent.academia.edu/ElenaVallespin">Elena Vallespin</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Molecular Sciences</p><p class="ds-related-work--abstract ds2-5-body-sm">High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the axial length (AL) of the eye is greater than 26 mm. This article focuses on early-onset high myopia, an increasingly common condition that affects children under 10 years of age and can lead to other serious ocular pathologies. Through the genetic analysis of 21 families with early-onset high myopia, this study seeks to contribute to a better understanding of the role of genetics in this disease and to propose candidate genes. Whole-exome sequencing studies with a panel of genes known to be involved in the pathology were performed in families with inconclusive results: 3% of the variants found were classified as pathogenic, 6% were likely pathogenic and the remaining 91% were variants of uncertain significance. Most of the families in this study were found to have alterations in several of the proposed genes. This suggests a poly...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia","attachmentId":119249858,"attachmentType":"pdf","work_url":"https://www.academia.edu/125157077/Whole_Exome_Sequencing_of_21_Families_Candidate_Genes_for_Early_Onset_High_Myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/125157077/Whole_Exome_Sequencing_of_21_Families_Candidate_Genes_for_Early_Onset_High_Myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="60958484" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia">Evaluation of 12 myopia-associated genes in Chinese patients with high myopia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative ophthalmology & visual science, 2015</p><p class="ds-related-work--abstract ds2-5-body-sm">Two recent large-scale genome-wide association studies identified significant associations between myopia and SNPs near the PRSS56, BMP3, KCNQ5, LAMA2, TOX, TJP2, RDH5, ZIC2, RASGRF1, GJD2, RBFOX1, and SHISA6 genes. Our study is to examine whether rare variants in these genes contribute to high myopia. Whole exome sequencing was performed on samples of 298 probands with early-onset high myopia (spherical refraction in each meridian ≤-6.00 D in both eyes; age of onset &lt;7 years) and 195 controls (different forms of retinal degeneration including Leber congenital amaurosis, cone-rod dystrophy, and familial exudative vitroretinopathy). Potential variations in these genes were selected for further validation and comparison to the controls. Moreover, Sanger sequencing was used to evaluate the coding regions and the upstream 800 base pairs of GJD2 in 395 additional subjects with late-onset moderate to high myopia (loMHM) (spherical refraction in each meridian ≤-4.00 D; age of onset ≥7 y...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Evaluation of 12 myopia-associated genes in Chinese patients with high myopia","attachmentId":74174947,"attachmentType":"pdf","work_url":"https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/60958484/Evaluation_of_12_myopia_associated_genes_in_Chinese_patients_with_high_myopia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="55109977" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/55109977/Prevalence_of_Mutations_in_eyeGENE_Probands_With_a_Diagnosis_of_Autosomal_Dominant_Retinitis_Pigmentosa">Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="37843958" href="https://independent.academia.edu/SallyVitez">Sally Vitez</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Investigative Ophthalmology & Visual Science, 2013</p><p class="ds-related-work--abstract ds2-5-body-sm">PURPOSE. To screen samples from patients with presumed autosomal dominant retinitis pigmentosa (adRP) for mutations in 12 disease genes as a contribution to the research and treatment goals of the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE). METHODS. DNA samples were obtained from eyeGENE. A total of 170 probands with an intake diagnosis of adRP were tested through enrollment in eyeGENE. The 10 most common genes causing adRP (IMPDH1, KLHL7, NR2E3, PRPF3/RP18, PRPF31/RP11, PRPF8/RP13, PRPH2/RDS, RHO, RP1, and TOPORS) were chosen for PCR-based dideoxy sequencing, along with the two X-linked RP genes, RPGR and RP2. RHO, PRPH2, PRPF31, RPGR, and RP2 were completely sequenced, while only mutation hotspots in the other genes were analyzed. RESULTS. Disease-causing mutations were identified in 52% of the probands. The frequencies of disease-causing mutations in the 12 genes were consistent with previous studies. CONCLUSIONS. The Laboratory for Molecular Diagnosis of Inherited Eye Disease at the University of Texas in Houston has thus far received DNA samples from 170 families with a diagnosis of adRP from the eyeGENE Network. Disease-causing mutations in autosomal genes were identified in 48% (81/170) of these families while mutations in X-linked genes accounted for an additional 4% (7/170). Of the 55 distinct mutations detected, 19 (33%) have not been previously reported. All diagnostic results were returned by eyeGENE to participating patients via their referring clinician. These genotyped samples along with their corresponding phenotypic information are also available to researchers who may request access to them for further study of these ophthalmic disorders. (ClinicalTrials.gov number, NCT00378742.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa","attachmentId":71140445,"attachmentType":"pdf","work_url":"https://www.academia.edu/55109977/Prevalence_of_Mutations_in_eyeGENE_Probands_With_a_Diagnosis_of_Autosomal_Dominant_Retinitis_Pigmentosa","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/55109977/Prevalence_of_Mutations_in_eyeGENE_Probands_With_a_Diagnosis_of_Autosomal_Dominant_Retinitis_Pigmentosa"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="66325736" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/66325736/A_genome_wide_scan_for_familial_high_myopia_suggests_a_novel_locus_on_chromosome_7q36">A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="37458324" href="https://independent.academia.edu/OlivierRascol">Olivier Rascol</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Journal of Medical Genetics, 2002</p><p class="ds-related-work--abstract ds2-5-body-sm">laboratory, in order to validate these results and to reduce the critical region for high myopia. The recruitment and analysis of new families and/or new members of the families already studied are needed before starting gene isolation experiments. The characterisation of the genes implicated in this common eye disorder will lead to a better understanding of the molecular mechanisms contributing to eye shape and growth. ACKNOWLEDGEMENTS Electronic database information. URLs for data in this paper are as follows: Perkin-Elmer, http://www.pebio.com/ga/ (for ABI PRISM Linkage Mapping Set MD-10). Généthon, http://genethon.fr (for additional polymorphic markers). CHLC Genetic maps, http://chlc.org/ ChlcMaps.html (for additional polymorphic markers). Human Gene Map '99, http://www.ncbi.nlm.nih.gov/genemap99 (for genes and expressed sequence tags in the region of interest within the interval between marker D7S798 and the telomere). We thank Dr L Cardon for his helpful discussion and for contributing actively to the statistical part of this work and Professor A Hovnanian for his critical review and comments on the manuscript. We also extend many thanks to the members of the myopia families. This work was supported by grants from the Association Retina France and from INSERM: Programme de Recherche en Santé No 4P015D.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36","attachmentId":77563405,"attachmentType":"pdf","work_url":"https://www.academia.edu/66325736/A_genome_wide_scan_for_familial_high_myopia_suggests_a_novel_locus_on_chromosome_7q36","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/66325736/A_genome_wide_scan_for_familial_high_myopia_suggests_a_novel_locus_on_chromosome_7q36"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="123209880" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/123209880/A_genome_wide_association_study_identifies_a_susceptibility_locus_for_refractive_errors_and_myopia_at_15q14">A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="58483290" href="https://independent.academia.edu/RobertKuijpers">Robert Kuijpers</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Nature Genetics, 2010</p><div class="ds-related-work--ctas"><button 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18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="104961126" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/104961126/Mutations_in_DZIP1_and_XYLT1_are_associated_with_nonsyndromic_early_onset_high_myopia_in_the_Korean_population">Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="52156458" href="https://independent.academia.edu/HyunTaekLim">Hyun Taek Lim</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Ophthalmic genetics, 2017</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" 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class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="47410940" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/47410940/New_susceptibility_locus_for_high_myopia_is_linked_to_the_uromodulin_like_1_UMODL1_gene_region_on_chromosome_21q22_3">New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="50149121" href="https://independent.academia.edu/MasaoOta">Masao Ota</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Eye, 2009</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"New susceptibility locus for high myopia is 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You can download the paper by clicking the button above.</p></div></div></div></div><div class="ds-sidebar--container js-work-sidebar"><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="0" data-entity-id="77512315" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/77512315/Phenotypic_characterization_of_patients_with_early_onset_high_myopia_due_to_mutations_in_COL2A1_or_COL11A1_Why_not_Stickler_syndrome">Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="45139348" href="https://independent.academia.edu/QingjiongZhang">Qingjiong Zhang</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular Vision, 2018</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?","attachmentId":84828360,"attachmentType":"pdf","work_url":"https://www.academia.edu/77512315/Phenotypic_characterization_of_patients_with_early_onset_high_myopia_due_to_mutations_in_COL2A1_or_COL11A1_Why_not_Stickler_syndrome","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/77512315/Phenotypic_characterization_of_patients_with_early_onset_high_myopia_due_to_mutations_in_COL2A1_or_COL11A1_Why_not_Stickler_syndrome"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="1" data-entity-id="30599836" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/30599836/Large_scale_international_replication_and_meta_analysis_study_confirms_association_of_the_15q14_locus_with_myopia_The_CREAM_consortium">Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. 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