Journal
MOLECULAR GENETICS AND METABOLISM
Volume 135, Issue 4, Pages 311-319Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2022.02.002
Keywords
Eye; Inborn errors of metabolism; Ocular phenotypes; Inherited metabolic disorders; Ophthalmologic; Retina; Optic atrophy; IEMbase
Funding
- Intramural Research Program of the National Human Genome Research Institute
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available