Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder

A 10-year-old girl initially diagnosed with functional visual loss was later diagnosed with progressive optic atrophy. Directed questioning at 13 years of age revealed difficulty hearing that had not been noted by the parents. Whole exome sequencing and subsequent metabolic testing confirmed biotinidase deficiency. Although biotinidase deficiency classically manifests in early childhood with multiple manifestations, such as seizures and failure...