Article
Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes.
Optometry and vision science : official publication of the American Academy of Optometry - 1 Nov 2011
Bucca Brian C, Klingensmith Georgeanna, Bennett Jeffrey L
Abstract excerpt
Wolfram Syndrome (WS) is a rare, autosomal recessive disorder that causes non-autoimmune type 1 diabetes. The etiology involves a single gene mutation of the wolframin protein inducing endoplasmic reticulum stress and apoptosis in selected cell types with resultant diabetes insipidus, diabetes mellitus, optic atrophy, and sensory-neural deafness. Symptoms are initially absent and signs within the posterior...
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