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Wolfram Syndrome: A Rare Optic Neuropathy in Youth with Type 1 Diabetes

Bucca, Brian C.*; Klingensmith, Georgeanna; Bennett, Jeffrey L.

doi: 10.1097/OPX.0b013e31822f4d8f
Case Report

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 segment of the eye are usually the earliest indicator of WS.

These cases characterize unusual and poorly described findings of pigmentary maculopathy in WS and illustrate the importance of collaboration between diabetes and eye care providers; especially in cases of non-autoimmune type 1 diabetes exhibiting atypical human leukocyte-associated antigen haplotypes.




The Barbara Davis Center for Childhood Diabetes (BCB, GK), Departments of Pediatrics and Ophthalmology (BCB), Department of Pediatrics (GK), and Departments of Neurology and Ophthalmology (JLB), University of Colorado, Denver, Aurora, Colorado.

Received March 31, 2011; accepted June 27, 2011.

Brian C. Bucca, University of Colorado, Denver, The Barbara Davis Center for Childhood Diabetes, 1775 Aurora Court, MS A140, PO Box 6511, Aurora, Colorado 80045, e-mail:

© 2011 American Academy of Optometry