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.