Department of Pediatrics, Amalia Children's Hospital Radboud Center for Mitochondrial and Metabolic Diseases, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab. 2022 Apr;135(4):311-319. doi: 10.1016/j.ymgme.2022.02.002. Epub 2022 Feb 15.
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.
约三分之一的遗传性代谢疾病（IMD）患者会出现眼部表现。虽然眼部受累不会危及生命，但可能导致严重的视力丧失，从而给患者带来额外的负担。最常见的表型是视网膜变性伴或不伴视神经萎缩，其次是眼球运动问题、角膜和晶状体受累以及屈光不正。这些表型可以提供有价值的线索，有助于诊断。在本期中，我们发现了 577 种与眼部表现相关的 IMD。本文是根据系统受累情况，尝试创建和维护临床和代谢鉴别诊断综合列表的系列文章中的第 7 篇。
