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Optic neuritis in a child with biotinidase deficiency case report and literature review

Authors Hayati A, Hazabbah W, Cheong M, Yunus R, Shatriah I

Received 10 December 2011

Accepted for publication 4 January 2012

Published 13 March 2012 Volume 2012:6 Pages 389—395

DOI https://doi.org/10.2147/OPTH.S29048

Review by Single-blind

Peer reviewer comments 3


Abdul-Aziz Hayati1, Wan-Hazabbah Wan-Hitam1, Min-Tet Cheong1, Rohaizan Yunus2, Ismail Shatriah1
1Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia; 2Department of Radiology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan, Malaysia

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.

Keywords: optic neuritis, children, biotinidase deficiency

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