Evidence of retinal degeneration in Wolfram syndrome.

PURPOSE: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.

MATERIALS AND METHODS: Observational case series. Patients underwent complete ocular examinations as well as retinal imaging and electroretinography.

RESULTS: Both patients had electroretinographic evidence of retinal dysfunction/degeneration in addition to optic atrophy with an otherwise normal-appearing retina.

CONCLUSIONS: Some patients with Wolfram syndrome have a mild retinal degeneration that may be a manifestation of the neuronal involvement that is present in this condition.