| Wolfram Syndrome: A Rare Optic Neuropathy in Youth with Type 1 Diabetes. | |
| | |
MedLine Citation:
|
PMID: 21892113 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
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:
|
Brian C Bucca; Georgeanna Klingensmith; Jeffrey L Bennett |
Related Documents
:
|
15879603 - New heparin dosing regimen for diabetics undergoing percutaneous coronary intervention. 6804473 - Identification of 2-hydroxy-2-methyllevulinic acid in urine and serum of diabetic patie... 7418953 - Beta-n-acetylglucosaminidase and beta-glucuronidase activities in insulin-dependent dia... |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2011-9-1 |
Journal Detail:
|
Title: Optometry and vision science : official publication of the American Academy of Optometry Volume: - ISSN: 1538-9235 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
|
Created Date: 2011-9-5 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8904931 Medline TA: Optom Vis Sci Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
*OD, FAAO †MD ‡MD, PhD University of Colorado, Denver, Anschutz Medical Campus, School of Medicine, 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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Tear Menisci After Overnight Contact Lens Wear.
Next Document: Prescribing for Hyperopia in Childhood and Teenage by Academic Optometrists.