Optic neuritis in a child with biotinidase deficiency case report and literature review
| Autor: | Min-Tet Cheong, Abdul-Aziz Hayati, Ismail Shatriah, Wan-Hazabbah Wan-Hitam, Rohaizan Yunus |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
optic neuritis
Pediatrics medicine.medical_specialty genetic structures biotinidase deficiency business.industry medicine.drug_class Biotinidase deficiency Case Report medicine.disease eye diseases Ophthalmology chemistry.chemical_compound Atrophy children Biotin chemistry medicine Corticosteroid Optic neuritis sense organs business Bilateral optic neuritis Early onset |
| Zdroj: | Clinical Ophthalmology (Auckland, N.Z.) |
| ISSN: | 1177-5483 |
| DOI: | 10.2147/opth.s29048 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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