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

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.

• Biotinidase deficiency
• juvenile-onset glaucoma
• optic atrophy

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.