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- Title
The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review.
- Authors
Medghalchi, Abdolreza; Rad, Afagh Hassanzadeh; Dalili, Setila
- Abstract
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.
- Subjects
ONLINE information services; OCULAR manifestations of general diseases; SYSTEMATIC reviews; GENETIC disorders; ALBINOS &; albinism; INBORN errors of metabolism; MEDLINE; HOMOCYSTINURIA
- Publication
Journal of Pediatrics Review, 2021, Vol 9, Issue 2, p137
- ISSN
2322-4398
- Publication type
Article
- DOI
10.32598/jpr.9.2.584.1