脂质贮积病的眼科表现

Ophthalmologic aspects of lipid storage diseases.

作者信息

Brady R O

出版信息

Ophthalmology. 1978 Oct;85(10):1007-13. doi: 10.1016/s0161-6420(78)35592-5.

Abstract

A cherry-red spot in the macular region of the fundus is the hallmark of the metabolic disorder known as Tay-Sachs disease. Ocular involvement is also a frequent concomitant of generalized gangliosidosis Niemann-Pick disease, and Fabry's disease. Ophthalmologists who are aware of these manifestations are often the first to derive the correct diagnosis in patients with these heritable conditions.

摘要

眼底黄斑区的樱桃红斑是被称为泰-萨克斯病的代谢紊乱的标志。眼部受累也是全身性神经节苷脂沉积症尼曼-匹克病和法布里病的常见伴随症状。知晓这些表现的眼科医生往往是最早对患有这些遗传性疾病的患者做出正确诊断的人。