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We further validated disease\u2010causing variants and performed co\u2010segregation analyses on the available family members by Sanger sequencing. We classified sequence changes according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines. Fourteen probands with diverse clinical diagnoses were analyzed, including microphthalmia (with or without microcornea and congenital cataract or congenital corneal opacification (CCO), four cases), anterior segment dysgenesis (ASD, six cases)\u2014including Peter\u2032s anomaly (PA, one case), PA and microphthalmia (one case), iridocoloboma or aniridia (with microcornea and\/or congenital cataract, two cases), and primary congenital glaucoma (PCG, two cases)\u2014congenital cataract (with CCO or microcornea, three cases), and Rubinstein\u2013Taybi syndrome (RSTS, one case). Initial inheritance patterns for 1, 5, and 8 cases were autosomal recessive, autosomal dominant, and sporadic, respectively. We identified 17 (likely) pathogenic variants and one variant of uncertain significance (VUS) in 16 genes, including\n                    <jats:italic>BMP4<\/jats:italic>\n                    ,\n                    <jats:italic>BCOR<\/jats:italic>\n                    ,\n                    <jats:italic>PITX3<\/jats:italic>\n                    , and\n                    <jats:italic>PAX6<\/jats:italic>\n                    . Among them, eight were novel variants, and two were\n                    <jats:italic>de novo<\/jats:italic>\n                    . We confirmed the pathogenicity of\n                    <jats:italic>PAX6<\/jats:italic>\n                    intronic mutation using\n                    <jats:italic>in vitro<\/jats:italic>\n                    splice assays and redefined the pathogenicity of the variants of uncertain significance as likely pathogenic. Patients with developmental eye diseases typically have complex ocular and systemic phenotypes, possibly leading to significant visual impairment and high blindness rates. Identifying the genetic causes facilitates early diagnosis and effective treatment and rehabilitation strategies, thereby providing valuable insights for genetic and clinical counseling of these patients.\n                  <\/jats:p>","DOI":"10.1155\/humu\/4035027","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:20:46Z","timestamp":1792138846000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Next\u2010Generation Sequencing to Identify Genetic Causes of Chinese Patients Affected With Non\u2010retinal Developmental Eye Disorders"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9893-1986","authenticated-orcid":false,"given":"Xiaozhen","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8231-6898","authenticated-orcid":false,"given":"Ruixuan","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaning","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7536-4853","authenticated-orcid":false,"given":"Shicheng","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9762-753X","authenticated-orcid":false,"given":"Boling","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4239-228X","authenticated-orcid":false,"given":"Liping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8079-2073","authenticated-orcid":false,"given":"Jing","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking University Third Hospital  Beijing China  puh3.net.cn"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,16]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.268"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31837"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.12.050"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5263"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-1350"},{"key":"e_1_2_9_6_2","first-page":"1444","article-title":"Measuring and Interpreting the Incidence of Congenital Ocular Anomalies: Lessons From a National Study of Congenital Cataract in the UK","volume":"42","author":"Rahi J. 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