The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:

JR_JPRE-9-2_006

تاریخ نمایه سازی: 9 آذر 1402

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.

Keywords:

Inherited Metabolic Disorder (IMD) , Ophthalmology , Eye

Authors

Abdolreza Medghalchi

Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.

Afagh Hassanzadeh Rad

Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.

Setila Dalili

Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.

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