Journal of Pediatrics Review
Journal of Pediatrics Review
J. Pediatr. Rev
Medical Sciences
http://jpr.mazums.ac.ir
1
admin
2322-4398
2322-4401
10.32598
en
jalali
1400
1
1
gregorian
2021
4
1
9
2
online
1
fulltext
en
The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review
Pediatric Endocrinology
Narrative Review
Narrative Review
<strong>Context</strong>: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects.<br>
<strong>Evidence Acquisition</strong>: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence.<br>
<strong>Results</strong>: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc.<br>
<strong>Conclusions</strong>: 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.
Inherited Metabolic Disorder (IMD), Ophthalmology, Eye
137
144
http://jpr.mazums.ac.ir/browse.php?a_code=A-10-584-1&slc_lang=en&sid=1
Abdolreza
Medghalchi
rezamed1340@yahoo.com
10031947532846006646
10031947532846006646
No
Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.
Afagh
Hassanzadeh Rad
afaghrad@gums.ac.ir
10031947532846006647
10031947532846006647
No
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.
Setila
Dalili
setiladalili1346@yahoo.com
10031947532846006648
10031947532846006648
Yes
Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran.