ArticleJournal of ophthalmic & vision research
Ophthalmologic Findings in Patients with Neuro-metabolic Disorders.
Article in Journal of ophthalmic & vision research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes.Molecular genetics and metabolism · 2022Review
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Authors and funding
5 authors.
Funding
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Abstract
purposeWe aimed to present the ophthalmic manifestations of neuro-metabolic disorders.
methodsPatients 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.
resultsA 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.
conclusionOphthalmological examination and assessment is essential in patients that may exhibit neuro-metabolic disorders.
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