Ophthalmologic Findings in Patients with Neuro-metabolic Disorders

Document Type

Article

Abstract

PURPOSE: We aimed to present the ophthalmic manifestations of neuro-metabolic disorders. METHODS: Patients who were diagnosed with neuro-metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities. RESULTS: A total of 213 patients with 34 different neuro-metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser-Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry-red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination. CONCLUSION: Ophthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.

Publication Date

1-1-2018

Publication Title

Journal of ophthalmic & vision research

ISSN

2008-2010

Volume

13

Issue

1

First Page

34

Last Page

38

PubMed ID

29403587

Digital Object Identifier (DOI)

10.4103/jovr.jovr_242_16

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