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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:   (91 Views)
Inborn errors of metabolism or Inherited metabolic disorders (IMD) are a class of genetic disorder which happens because of single-gene defects. Early diagnosis, thorough laboratory assessments and refer to tertiary care centers if needed are absolutely essential for patients. IMDs may induce small molecule diseases by affecting protein, carbohydrate, lipid, and nucleic acid. Also it can be organelle disease and affect lysosomes, mitochondria, peroxisomes, and cytoplasm. Besides, IMDs have diverse complications on eyes including ocular abnormalities of conjunctiva, cornea, lens, retina, optic nerve, ocular motility or symmetrical bilateral involvement and severe visual acuity in about 2 meters counting finger. Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on follow-up, management, and treatment of IMDs, a detailed ophthalmological assessment is essential. In this narrative review article, authors summarized the effect of IMDs of amino acids, carbohydrate, Lipid, glycoprotein, lysosomes, lipoprotein and lipid, and miscellaneous diseases on eyes.
Keywords: IMD, Ophthalmology, Eye
Full-Text [PDF 742 kb]   (73 Downloads)    
Type of Study: Narrative Review | Subject: Pediatric Endocrinology
Received: 2020/07/17 | Accepted: 2020/10/22

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