Spencer S. Eccles Health Sciences Library, University of Utah
Abstract
The differential diagnosis of optic atrophy and hearing loss includes genetic disorders such as Wolfram syndrome and dominant optic atrophy. We report two siblings with optic atrophy, sensorineural hearing loss, and sensory neuropathy with ataxia that were found to have heterozygous pathogenic mutations in SLC52A2, a riboflavin transporter gene that is associated with Brown-Vialetto-Van Laere (BVVL) syndrome
