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

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Biotinidase deficiency is a rare inherited metabolic disorder affecting biotin metabolism.
• Juvenile-onset glaucoma is an uncommon presentation for this condition.
• Long-term ophthalmic monitoring is crucial for patients with biotinidase deficiency.

Observation:

• A female patient with biotinidase deficiency, diagnosed with juvenile-onset glaucoma, was followed for over 30 years.
• Her intraocular pressure, optic nerve appearance, and visual field defects remained stable during the follow-up period.

Findings:

• The patient's visual field defect is attributed to optic atrophy resulting from early-life biotinidase deficiency.
• The findings suggest that the observed visual field defect is not primarily glaucomatous damage.

Implications:

• This case highlights the importance of early diagnosis and management of biotinidase deficiency to prevent irreversible optic nerve damage.
• Understanding the pathogenesis of visual impairment in biotinidase deficiency can inform future treatment strategies.
• Further research is needed to elucidate the precise mechanisms linking biotinidase deficiency to optic atrophy.