{"title":"Retinal detachment, vitreous hemorrhage, and foveal hypoplasia associated with 3q27.1q27.2 microdeletion: a case report","authors":"","doi":"10.1016/j.jaapos.2024.103960","DOIUrl":null,"url":null,"abstract":"<div><p>Terminal deletions of chromosome 3q<span><span> are associated with a heterogenous clinical phenotype, which includes growth restriction, developmental delay, and intellectual disability. However, little has been published on the ophthalmic impacts of chromosome 3q deletions. We report a 9-year-old boy with a 1.4 megabase deletion of 3q27.1q27.2 whose ocular morbidities included </span>retinal detachment<span><span> in one eye, vitreous hemorrhage in the other eye, and foveal </span>hypoplasia in both eyes that required acute care and continuous ophthalmologic follow-up.</span></span></p></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Aapos","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1091853124002404","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Terminal deletions of chromosome 3q are associated with a heterogenous clinical phenotype, which includes growth restriction, developmental delay, and intellectual disability. However, little has been published on the ophthalmic impacts of chromosome 3q deletions. We report a 9-year-old boy with a 1.4 megabase deletion of 3q27.1q27.2 whose ocular morbidities included retinal detachment in one eye, vitreous hemorrhage in the other eye, and foveal hypoplasia in both eyes that required acute care and continuous ophthalmologic follow-up.
期刊介绍:
Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.