{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T09:09:00Z","timestamp":1784020140776,"version":"3.55.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Congenital cataracts (CC) are a preventable cause of childhood blindness, accounting for approximately 10% of cases. A significant portion of CC cases remains idiopathic. Genetic diagnosis can eliminate unnecessary tests and ensure appropriate follow-up and treatment. This study aimed to evaluate the etiology of CC without known etiological reasons in 10 families using whole exome sequencing (WES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Ten families participated in this study, with all patients undergoing comprehensive ophthalmological, metabolic, and genetic assessments. DNA samples from the probands were analyzed using WES, and variants were verified and validated through Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 10 patients diagnosed with isolated CC, 9 (90%) had bilateral cataracts, and 1 (10%) had unilateral cataract. Nuclear type cataracts were detected in 8 (80%) patients, while polar type cataracts were found in 2 (20%) patients. Parental consanguinity was present in 7 out of the 10 families. An unidentified variant in the\n                      <jats:italic toggle=\"yes\">RAB3GAP1<\/jats:italic>\n                      gene (c.491C\u2009&gt;\u2009G) associated with Martsolf syndrome was found in one patient. Two novel and one previously identified gene variants associated with CC were detected in 3 of the remaining 9 patients: a novel c.463C\u2009&gt;\u2009T in\n                      <jats:italic toggle=\"yes\">CRYGD<\/jats:italic>\n                      , a previously identified c.965dup in\n                      <jats:italic toggle=\"yes\">HSF4<\/jats:italic>\n                      , and a novel c.3330C\u2009&gt;\u2009A in\n                      <jats:italic toggle=\"yes\">FYCO1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The high rate of consanguineous marriages in Turkey (23.3%) increases the incidence of autosomal recessive (AR) diseases, explaining the higher prevalence of AR CC despite its usual autosomal dominant inheritance. In conclusion, WES is a valuable tool in determining the etiology of isolated CC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721251340844","type":"journal-article","created":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T03:13:07Z","timestamp":1746673987000},"page":"2075-2082","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Next generation sequencing in children with isolated congenital cataract"],"prefix":"10.1177","volume":"35","author":[{"given":"Gunay","family":"Amanova","sequence":"first","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Er","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"Isik","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebru","family":"Canda","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Turkan Turkut","family":"Tan","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asude","family":"Durmaz","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema Kalkan","family":"Ucar","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayca","family":"Aykut","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahir","family":"Atik","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmut","family":"Coker","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onder","family":"Uretmen","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-5599","authenticated-orcid":false,"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[{"name":"Ege University Faculty of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0886-3350(97)80040-5"},{"key":"e_1_3_3_3_2","first-page":"227","article-title":"Childhood blindness in the context of VISION 2020 - The right to sight","volume":"79","author":"Gilbert C","year":"2001","unstructured":"Gilbert C, Foster A. 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