PDF(Pubmed)
Abstract：
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.
摘要：
在所有遗传性代谢紊乱(IMD)的大约三分之一中观察到眼部表现。虽然眼部受累不会危及生命,会导致严重的视力丧失,从而给患者带来额外负担。视网膜变性伴或不伴视神经萎缩是最常见的表型，其次是动眼问题，角膜和晶状体受累，和屈光不正。这些表型可以提供有助于其诊断的有价值的线索。在本期中，我们发现了577个相关的IMD导致眼科表现。本文是一系列尝试根据系统参与创建和维护临床和代谢鉴别诊断的综合列表的第七篇。
