Biotinidase deficiency is an autosomal recessive condition in which the normal recycling of biotin is deficient. If untreated, infants with biotinidase deficiency will develop neurologic derangements including optic atrophy.1 We describe a case of optic neuropathy due to biotinidase deficiency in a 19-year-old man.
Article InformationCorresponding Author: Scott R. Haines, MD, Departments of Neurology and Ophthalmology, Virginia Commonwealth University, 417 N 11th St, Fifth Floor, PO Box 980599, Richmond, VA 23298 (firstname.lastname@example.org).
Study concept and design: Haines.
Acquisition of data: Haines, Longmuir.
Analysis and interpretation of data: Haines, Longmuir.
Drafting of the manuscript: Haines.
Critical revision of the manuscript for important intellectual content: Longmuir.
Administrative, technical, and material support: Longmuir.
Study supervision: Longmuir.
Conflict of Interest Disclosures: None reported.