Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.
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.
Department of Ophthalmology, Royal Victoria Hospital Belfast, Northern Ireland United Kingdom.
Sarah
S
Chamney
Department of Ophthalmology, Royal Victoria Hospital Belfast, Northern Ireland United Kingdom.
Vasuki Gnana
VG
Jothi
Department of Ophthalmology, Royal Victoria Hospital Belfast, Northern Ireland United Kingdom.
Eibhlin
E
McLoone
Biotinidase deficiency; juvenile-onset glaucoma; optic atrophy