{"title":"Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.","authors":"Neha Arora, Sandra Hoyek, Nimesh A Patel","doi":"10.3928/23258160-20240207-03","DOIUrl":null,"url":null,"abstract":"<p><p>We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing revealed the presence of a heterozygous pathogenic oculocutaneous albinism OCA2 gene mutation, conferring carrier status. To the best of our knowledge, this is the first reported case of typical ocular phenotype of albinism, specifically nystagmus, in a patient who is carrier for oculo-cutaneous albinism. Further research is required to expand the genotype-phenotype relationship in carriers of oculocutaneous albinism. <b>[<i>Ophthalmic Surg Lasers Imaging Retina</i> 2024;55:349-353.]</b>.</p>","PeriodicalId":19679,"journal":{"name":"Ophthalmic surgery, lasers & imaging retina","volume":"55 6","pages":"349-353"},"PeriodicalIF":0.9000,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic surgery, lasers & imaging retina","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3928/23258160-20240207-03","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report a 23-year-old female patient with ophthalmic features of albinism, including refractive errors, nystagmus, depigmented fundus, and foveal hypoplasia. She presented for a rhegmatogenous retinal detachment, which was surgically reattached with no complications. Further genetic testing revealed the presence of a heterozygous pathogenic oculocutaneous albinism OCA2 gene mutation, conferring carrier status. To the best of our knowledge, this is the first reported case of typical ocular phenotype of albinism, specifically nystagmus, in a patient who is carrier for oculo-cutaneous albinism. Further research is required to expand the genotype-phenotype relationship in carriers of oculocutaneous albinism. [Ophthalmic Surg Lasers Imaging Retina 2024;55:349-353.].
期刊介绍：
OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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