Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.5.1.12 (
biotinidase
)
392
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect. 2816 95
