{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T22:21:07Z","timestamp":1783635667705,"version":"3.55.0"},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec040\">\n<jats:title>\nPurpose\n<\/jats:title>\n<jats:p>Inherited eye diseases (IEDs) are among the main causes of visual impairment and blindness in children and young people worldwide. The objective of our study was to characterize the prevalence and distribution of the most common IEDs and causative genes in our population.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec041\">\n<jats:title>\nStudy design\n<\/jats:title>\n<jats:p>Retrospective study based on medical records of patients with IEDs who underwent genetic counselling through our multidisciplinary low vision center from 2018 to 2020.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec042\">\n<jats:title>\nMethods\n<\/jats:title>\n<jats:p>Data retrieved from medical files included: year of consultation, age, gender, ethnicity, diagnosis, gene variants and mode of inheritance.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec043\">\n<jats:title>\nResults\n<\/jats:title>\n<jats:p>228 patients were included in our study. The most common diagnoses were inherited retinal diseases (IRDs) (41.2%) and albinism (32%). In 2018 and 2019 the number of patients reaching out for genetic counselling was between 50 and 60; this number doubled by 2020. The rate of pathogenic variant detection was 65.3%. The most common genes identified were <jats:italic>TYR<\/jats:italic> (29.2%)<jats:italic>, OCA2<\/jats:italic> (7.9%)<jats:italic>, ABCA4 (5.3%), TRPM1<\/jats:italic> (5.3%) and <jats:italic>USH2A<\/jats:italic> (4.4%).<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec044\">\n<jats:title>\nConclusion\n<\/jats:title>\n<jats:p>Genetic counselling and testing became an essential part of caregiving for patients and families affected by these severe IEDs. The most common IEDs were IRDs in the Muslim population and albinism in the Jewish population. Pathogenic variants in the <jats:italic>TYR<\/jats:italic> gene were the most common in our cohort, <jats:italic>OCA2<\/jats:italic> gene was the second in frequency, followed by <jats:italic>ABCA4<\/jats:italic>, <jats:italic>TRPM1<\/jats:italic> and <jats:italic>USH2A<\/jats:italic> genes. We detected an increasing trend over the studied time in the number of patients reaching out for genetic counselling.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0318492","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T18:47:27Z","timestamp":1739472447000},"page":"e0318492","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":1,"title":["The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study"],"prefix":"10.1371","volume":"20","author":[{"given":"Michal","family":"Kaminer Abargel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Macarov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Hendler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7747-3568","authenticated-orcid":true,"given":"Claudia","family":"Yahalom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2025,2,13]]},"reference":[{"key":"pone.0318492.ref001","doi-asserted-by":"crossref","DOI":"10.1177\/2515841420954592","volume-title":"Practical guide to genetic screening for inherited eye diseases","author":"C M\u00e9j\u00e9case","year":"2020"},{"issue":"2","key":"pone.0318492.ref002","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1001\/archopht.125.2.205","article-title":"Genetic testing for inherited eye disease","volume":"125","author":"EM Stone","year":"2007","journal-title":"Arch Ophthalmol"},{"issue":"3","key":"pone.0318492.ref003","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.jaapos.2015.04.002","article-title":"Trends in the incidence and causes of severe visual impairment and blindness in children from Israel","volume":"19","author":"E Mezer","year":"2015","journal-title":"J AAPOS"},{"issue":"10","key":"pone.0318492.ref004","first-page":"2052","article-title":"Childhood visual impairment and blindness: 5-year data from a tertiary low vision center in Israel","volume":"36","author":"C Yahalom","year":"2022","journal-title":"Eye (Basingstoke)"},{"issue":"4","key":"pone.0318492.ref005","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1080\/13816810.2018.1474368","article-title":"Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease","volume":"39","author":"C Yahalom","year":"2018","journal-title":"Ophthalmic Genet"},{"issue":"6","key":"pone.0318492.ref006","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.jaapos.2012.09.004","article-title":"An update on progress and the changing epidemiology of causes of childhood blindness worldwide","volume":"16","author":"L Kong","year":"2012","journal-title":"J AAPOS"},{"issue":"2","key":"pone.0318492.ref007","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1136\/bjophthalmol-2015-306737","article-title":"Changing trends over the last decade in the aetiology of childhood blindness: a study from a tertiary referral centre","volume":"100","author":"T Ozturk","year":"2016","journal-title":"Br J Ophthalmol"},{"issue":"12","key":"pone.0318492.ref008","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1016\/j.ophtha.2004.05.033","article-title":"Visual impairment in children born at full term from 1972 through 1989 in Finland","volume":"111","author":"S-L Rudanko","year":"2004","journal-title":"Ophthalmology"},{"issue":"7","key":"pone.0318492.ref009","first-page":"495","article-title":"Genetics of blindness","volume":"47","author":"JA Hurst","journal-title":"Br J Hosp Med"},{"issue":"1","key":"pone.0318492.ref010","first-page":"60","article-title":"Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico. 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