Abstract
A young patient with a history of progressive bilateral optic atrophy of unclear onset presented with worsening vision. Past medical history included type 1 diabetes mellitus diagnosed in 2007 and a traumatic brain injury following a motorcycle accident in 2014, without loss of consciousness. She denied tobacco, alcohol, or heavy metal exposure, and her family history was negative for ocular diseases. Ophthalmic evaluation confirmed bilateral optic atrophy, raising concern for a syndromic etiology. Given the coexistence of optic atrophy and diabetes mellitus, Wolfram Syndrome (WFS1) was suspected. Genetic testing identified two pathogenic variants in the WFS1 gene, confirming the diagnosis. This case underscores the importance of considering Wolfram Syndrome, a mitochondrial optic neuropathy, in young patients presenting with unexplained optic atrophy and diabetes, as early recognition allows for appropriate counseling, genetic testing, and multidisciplinary management of this rare neurodegenerative disorder.
Presentation Date: 09/18/2025
Issue Date: 07/03/2026
