Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome

Q4 Medicine

Revista Brasileira De Oftalmologia Pub Date : 2023-01-01 DOI:10.37039/1982.8551.20230052

Paulo de Tarso Ponte Pierre-Filho, Lucas Linhares Pierre

引用次数: 0

Abstract

Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes. Based on the different clinical presentations, it is divided into four subtypes as in WS1 to WS4. This report describes a 15-year-old boy who presented with low vision and bilateral hearing loss. His visual acuity was 20/200 in both eyes. Slit-lamp examination revealed complete iris heterochromia, with one blue iris and one brown iris. Fundus examination showed [...]

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Waardenburg综合征的双侧对称性黄斑病变和异色

Waardenburg综合征是一种罕见的先天性遗传疾病，其特征是感觉神经性听力丧失和头发、皮肤和眼睛的色素异常。根据临床表现的不同，将其分为WS1 ~ WS4四个亚型。本报告描述了一名15岁的男孩，他表现为低视力和双侧听力损失。他的双眼视力是20/200。裂隙灯检查显示虹膜完全异色，1个蓝色虹膜，1个棕色虹膜。眼底检查显示[…]

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Revista Brasileira De Oftalmologia OPHTHALMOLOGY-

CiteScore

0.30

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： A Revista Brasileira de Oftalmologia (Rev Bras Oftalmol.) - ISSN 0034-7280, publicação científica da Sociedade Brasileira de Oftalmologia, se propõe a divulgar artigos que contribuam para o aperfeiçoamento e o desenvolvimento da prática, da pesquisa e do ensino da Oftalmologia e de especialidades afins. Todos os manuscritos, após aprovação pelos Editores serão avaliados por dois ou três revisores qualificados (peer review), sendo o anonimato garantido em todo o processo de julgamento.