期刊
MOLECULAR GENETICS AND METABOLISM
卷 135, 期 4, 页码 311-319出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2022.02.002
关键词
Eye; Inborn errors of metabolism; Ocular phenotypes; Inherited metabolic disorders; Ophthalmologic; Retina; Optic atrophy; IEMbase
资金
- Intramural Research Program of the National Human Genome Research Institute
Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs), with retinal degeneration being the most common phenotype. These ocular manifestations provide valuable clues for diagnosis.
Ocular manifestations are observed in approximately one third of all inherited metabolic disorders (IMDs). Although ocular involvement is not life-threatening, it can result in severe vision loss, thereby leading to an additional burden for the patient. Retinal degeneration with or without optic atrophy is the most frequent phenotype, followed by oculomotor problems, involvement of the cornea and lens, and refractive errors. These phenotypes can provide valuable clues that contribute to its diagnosis. In this issue we found 577 relevant IMDs leading to ophthalmologic manifestations. This article is the seventh of a series attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement. (C) 2022 The Authors. Published by Elsevier Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据