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Evidence of retinal degeneration in Wolfram syndrome
Matteo Scaramuzzi1,2, Priyanka Kumar3, Neal Peachey2
1a 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.
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.
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