Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review

Area of Science:

• Ophthalmology
• Medical Genetics
• Neurology

Background:

• Biotinidase deficiency is a rare inherited metabolic disorder affecting biotin metabolism.
• It can lead to progressive neurological and ocular symptoms if left untreated.
• Optic neuropathy is a recognized but often overlooked manifestation.

Purpose of the Study:

• To report a case of biotinidase deficiency presenting with optic neuropathy in a young adult.
• To review the literature on biotinidase deficiency-associated optic neuropathy.
• To emphasize the importance of early diagnosis and treatment.

Main Methods:

• A case of a 19-year-old female with vision changes was evaluated.
• Diagnostic tools included ophthalmic examination, OCT, MRI, and laboratory testing for biotinidase levels.
• A comprehensive literature review of biotinidase deficiency optic neuropathy cases was performed.

Main Results:

• The patient presented with bilateral optic neuropathy and low biotinidase activity, responding well to biotin supplementation.
• The literature review identified 40 cases, predominantly in males, with a significant diagnostic delay.
• Patients commonly experienced severe vision loss, including color and visual field deficits, prior to diagnosis.

Conclusions:

• Biotinidase deficiency should be considered in the differential diagnosis of bilateral, progressive optic neuropathy, especially in young individuals.
• Prompt diagnosis and initiation of oral biotin supplementation are crucial for potentially halting or reversing visual decline.
• This condition underscores the link between metabolic disorders and ocular health.