Abstract
PURPOSE: To present a case of two siblings with optic atrophy associated with Wolfram Syndrome. OBSERVATIONS: Two young adult siblings presented with serious bilateral loss of vision and dyschromatopsia established in early adolescence. They were referred with a presumed diagnosis of Leber's Hereditary Optic Neuropathy. At baseline, visual acuity was 20/400 in the right eye and 20/200 in the left eye in patient A and 20/200 in both eyes in patient B, color perception tested with pseudo-isochromatic plates was 0/17 in each eye, optic discs were pale, visual field testing revealed diffuse scotomas bilaterally while electrophysiology showed delayed prominent positive deflection (P100) values in both patients. Personal history revealed Type 1 diabetes mellitus since early childhood. Patients were lost to follow-up and presented 4 years later with significant VA decrease (<20/400) and suspected hearing loss. At that point, genetic testing revealed a pathogenic variation in the WFS1 gene thus confirming the diagnosis of Wolfram syndrome. Treatment with idebenone was proposed, to which only one of the siblings agreed. The other patient remained under observation, as no known treatment for optic atrophy in Wolfram syndrome exists to date. CONCLUSIONS AND IMPORTANCE: Wolfram syndrome is a rare neurodegenerative genetic disease associated with diabetes mellitus, optic atrophy and deafness. Careful and detailed medical and family history led to appropriate testing that confirmed the diagnosis of Wolfram syndrome. To this day, there is no definite treatment for this disease, but the experimental use of idebenone has been suggested to improve visual function. Genetic testing of family members and offspring of patients is strongly recommended.