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There were no other dysmorphic features or ocular developmental anomalies. To our knowledge, this is the first report in literature of a concomitant optic nerve coloboma in a case of nonsyndromic retinitis pigmentosa related to USH2A variants.<\/jats:p>","DOI":"10.1155\/crig\/4667935","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T16:33:56Z","timestamp":1741710836000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Optic Nerve Coloboma in a Child With Compound Heterozygous USH2A Variants"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7749-9175","authenticated-orcid":false,"given":"Emily S.","family":"Levine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nidhi D.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin M.","family":"Salcone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108330"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102316"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_204_20"},{"key":"e_1_2_8_5_2","first-page":"1","article-title":"Unilateral Retinitis Pigmentosa and Macular Coloboma With Fellow Eye Pigmented Paravenous Chorioretinal Atrophy","author":"Panigrahi P. 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