{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T10:26:25Z","timestamp":1787307985358,"version":"build-2736575974"},"reference-count":57,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Rappaport Family Institute for Research in the Medical Sciences","award":["069-25"],"award-info":[{"award-number":["069-25"]}]},{"award":["069-25"],"award-info":[{"award-number":["069-25"]}],"id":[{"id":"https:\/\/ror.org\/029hzjx43","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Microphthalmia, anophthalmia and ocular coloboma (MAC) are rare developmental eye disorders. Although over 100 causative genes have been identified, the molecular spectrum and genotype\u2013phenotype correlations remain incompletely understood, particularly in genetically diverse populations. We set out to molecularly characterize MAC in the Israeli population. Forty-seven MAC-affected individuals from 43 unrelated families were enrolled. DNA of all probands was subjected to whole exome sequencing. The most common phenotype was microphthalmia (64% of patients). Definite or possible molecular diagnoses were achieved in 13\/43 probands (30%) and involved 10 different genes (MFRP, SMO, GJA8, SOX2, RARB, TSPAN12, SHH, PTPN11, BEST1, and TP63). An in vitro splicing assay was used to explore the pathogenicity of a variant in the SMO gene. Following stringent filtering of exome data, 226 rare possibly pathogenic variants were identified in 218 genes not previously associated with MAC. The rate of molecular diagnosis achieved in this Israeli MAC cohort is similar to the reported range in other studies. The results further demonstrate the genetic heterogeneity of MAC, while supporting the involvement of complex inheritance and\/or environmental factors in many of the cases. Further studies are required to reveal these underlying etiological factors, and to support the novel genotype\u2013phenotype associations suggested here.<\/jats:p>","DOI":"10.3390\/biom16081219","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T09:31:59Z","timestamp":1787304719000},"page":"1219","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype\u2013Phenotype Correlations and Novel Candidate Genes"],"prefix":"10.3390","volume":"16","author":[{"given":"Yakov","family":"Rabinovich","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa 3339419, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoav","family":"Vardizer","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa 3339419, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirley","family":"Pincovich","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa 3339419, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marva","family":"Wolowelsky","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Kulyamzin","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6714-9051","authenticated-orcid":false,"given":"Miriam","family":"Ehrenberg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Schneider Children\u2019s Medical Center of Israel, Petah Tikva 4920235, Israel"},{"name":"Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6139001, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiri","family":"Zayit-Soudry","sequence":"additional","affiliation":[{"name":"Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 6139001, Israel"},{"name":"Department of Ophthalmology, Rabin Medical Center, Petah Tikva 4941492, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inbal","family":"Man Peles","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa 3339419, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rina","family":"Leibu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Rambam Health Care Campus, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitza","family":"Goldenberg-Cohen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa 3339419, Israel"},{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Ben-Yosef","sequence":"additional","affiliation":[{"name":"The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1002\/ajmg.a.40352","article-title":"Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999\u20132009","volume":"176","author":"Chambers","year":"2018","journal-title":"Am. 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