Abstract
To report pigmentary maculopathy in two siblings with Wolfram syndrome (WS), which is a rare neurodegenerative autosomal recessive disorder that predisposes the development of type 1 diabetes in association with progressive optic atrophy. We describe the ophthalmologic presentation of two white siblings with WS. Two brothers from a nonconsanguineous family had clinical characteristics of WS with type 1 diabetes and progressive optic atrophy at the age of 7 years to 8 years. Maculopathy pigmentary was discovered at the age of 20 years in the elder brother and at the age of 18 years in the younger brother. Diabetic retinopathy was absent. WFS1 gene investigation revealed two different inactivating mutations. A mitochondrial DNA mutation was not found in either patient. Further study is needed to determine the prevalence of this clinical presentation.
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