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眼白化病、内眦间距增宽与皮肤色素脱失:一个表型难题。

Ocular Albinism, Telecanthus, and Skin Depigmentation: A Phenotypic Conundrum.

作者信息

López-Fontanet José J, Ramos-Sánchez Raúl Y, Izquierdo Natalio

机构信息

Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

Department of Otolaryngology-Head and Neck Surgery, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.

出版信息

Cureus. 2024 Aug 19;16(8):e67204. doi: 10.7759/cureus.67204. eCollection 2024 Aug.

Abstract

This case report details the clinical manifestations observed in a 22-year-old male diagnosed with ocular albinism (OA). The patient underwent a comprehensive eye examination by one of the authors, revealing clinical features such as skin depigmentation, telecanthus, iris transillumination, nystagmus, and foveal hypoplasia. This report underscores the importance of a thorough clinical examination and genetic testing for accurate diagnosis, effective management, and appropriate counseling of patients with OA.

摘要

本病例报告详细描述了一名被诊断为眼白化病(OA)的22岁男性的临床表现。患者接受了作者之一进行的全面眼部检查,发现了诸如皮肤色素脱失、内眦间距增宽、虹膜透照、眼球震颤和黄斑发育不全等临床特征。本报告强调了全面临床检查和基因检测对于OA患者准确诊断、有效管理及适当咨询的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/852d/11410422/a1fce7ac6ab1/cureus-0016-00000067204-i01.jpg

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