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Evidence of retinal degeneration in Wolfram syndrome |
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| Authors: | Matteo Scaramuzzi Priyanka Kumar Neal Peachey Paolo Nucci |
| Affiliation: | 1. Department of Clinical Sciences and Community Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Multimedica, University of Milan, Eye Clinic San Giuseppe Hospital, Milan, Italy;2. Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA;3. Department of Ophthalmology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA;4. Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA |
| Abstract: | 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. |
| Keywords: | Wolfram syndrome optic atrophy retinal degeneration electroretinography diabetes mellitus diabetes insipidus |