一名患有泰-萨克斯病患者的脉络膜缺损。

Choroidal coloboma in a case of tay-sachs disease.

作者信息

Ahmed Nasreen Raees, Tripathy Koushik, Kumar Vivek, Gogia Varun

机构信息

Department of Ophthalmology, Dr. R. P. Centre, All India Institute of Medical Sciences, New Delhi 110029, India.

出版信息

Case Rep Ophthalmol Med. 2014;2014:760746. doi: 10.1155/2014/760746. Epub 2014 Sep 10.

DOI:10.1155/2014/760746

PMID:25295204

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4177187/

Abstract

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

摘要

缺损作为一种眼部表现已在多种综合征中被记录。在此，我们报告一例与单侧脉络膜缺损相关的婴儿型泰-萨克斯病病例。据我们所知，这种关联在文献中尚未见报道。这种关联是出于偶然还是表明神经节苷脂代谢参与了眼部胚胎发育，仍有待阐明。