ArticleClinical ophthalmology (Auckland, N.Z.)2012
Optic neuritis in a child with biotinidase deficiency: case report and literature review.
Article in Clinical ophthalmology (Auckland, N.Z.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in theFrontiers in pediatrics · 2021Article
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- Comment on: Childhood optic atrophy in biotinidase deficiency.Indian journal of ophthalmology · 2016Article
- Optic neuritis in pediatric population: a review in current tendencies of diagnosis and management.Journal of optometryReview
- Eye involvement in inherited metabolic disorders.Therapeutic advances in ophthalmologyReview
- Ophthalmologic Findings in Patients with Neuro-metabolic Disorders.Journal of ophthalmic & vision researchArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Optic atrophy has often been reported in children with biotinidase deficiency. The visual prognosis is usually poor. This report is of a 6-year-old boy with an early onset of biotinidase deficiency who presented with acute profound visual loss in both eyes. Fundoscopy revealed swollen discs in both eyes, and the imaging was consistent with bilateral optic neuritis. He was treated with systemic corticosteroid, and commenced on oral biotin. The final visual outcome was promising.
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Registered trials
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