title: Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes.
abstract: 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.
authors: The Barbara Davis Center for Childhood Diabetes, Departments of Pediatrics and Ophthalmology, University of Colorado, Denver, Aurora, Colorado 80045, USA. brian.bucca@ucdenver.edu
authors: Brian C
authors: BC
authors: Bucca
authors: Georgeanna
authors: G
authors: Klingensmith
authors: Jeffrey L
authors: JL
authors: Bennett
mesh_terms: D000293:Adolescent; D002648:Child; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D005654:Fundus Oculi; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis* / Q000235:genetics; D009900:Optic Nerve / Q000473:pathology*; D014792:Visual Acuity; D014929:Wolfram Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C114987:wolframin protein; D004247:DNA