期刊
OPHTHALMIC GENETICS
卷 40, 期 1, 页码 34-38出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2018.1551494
关键词
Wolfram syndrome; optic atrophy; retinal degeneration; electroretinography; diabetes mellitus; diabetes insipidus
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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