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.
Highlights
Neuro‐metabolic disorders are caused by both neuronal and metabolic system involvement
Patients with neuro‐metabolic disorders might present with seizures, aciduria, developmental delays, and/or ophthalmological abnormalities.[5,6,7,8]
This retrospective study was performed on patients who were diagnosed with neuro‐metabolic disorders in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between March 2004 and May 2014
Summary
Neuro‐metabolic disorders are caused by both neuronal and metabolic system involvement. Quick Response Code: Website: www.jovr.org of evaluation for the chronic forms of these disorders depends on demographic information, including sex, age, underlying disorders, family history, and specific signs and symptoms.[1] Neuro‐metabolic disorders, often caused by defects in enzymatic functions, are classified in different subgroups.[2,3,4] Patients with neuro‐metabolic disorders might present with seizures, aciduria, developmental delays, and/or ophthalmological abnormalities.[5,6,7,8] Progressive external ophthalmoplegia has been mentioned as one of the symptoms in mitochondrial disorders
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