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Case Reports

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect

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Pages 251-253 | Received 18 May 2013, Accepted 10 Jun 2013, Published online: 19 Nov 2013
 

Abstract

We present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up. We feel that this patient’s visual field defect is a result of optic atrophy due to biotinidase deficiency in early life rather than glaucomatous damage.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Note: Figure 1 of this case report appears in colour online at informahealthcare.com/oph.

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