‎ 10.32598/jpr.9.2.584.1

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Medghalchi A, Hassanzadeh Rad A, Dalili S. The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review. J. Pediatr. Rev. 2021; 9 (2) :137-144
URL: http://jpr.mazums.ac.ir/article-1-351-en.html Abdolreza Medghalchi1, Afagh Hassanzadeh Rad2 , Setila Dalili 3

1- Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.
2- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
3- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran. , setiladalili1346@yahoo.com

Abstract:   (969 Views)

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.

Full-Text [PDF 1528 kb]   (332 Downloads) |   |   Full-Text (HTML)  (3 Views)   Type of Study: Narrative Review | Subject: Pediatric Endocrinology
Received: 2020/07/17 | Accepted: 2020/10/22 | Published: 2021/04/1

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