| Identifier |
20170402_nanos_posters_024 |
| Title |
Two Cases of Wolfram-Related Optic Atrophy: A New Mutation and A Misdiagnosis of Normal-tension Glaucoma |
| Creator |
Victoria S. Pelak, MD |
| Affiliation |
University of Colorado School of Medicine, Aurora, CO |
| Subject |
Genetic Disease; Optic Neuropathy; Miscellaneous |
| Description |
The phenotypic spectrum of WFS1-related Disorders; spanning from Wolfram syndrome (WFS) to WFS1-related low-frequency hearing loss, are linked to mutations in the WFS1 gene. We describe two patients with WFS1 gene mutations with an incomplete DIDMOAD tetrad and highlight a previously unreported WFS1 mutation in one proband and a misdiagnosis of normal-tension glaucoma (NTG) in the other. |
| Date |
2017 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2017 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2017: Poster Presentations |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| ARK |
ark:/87278/s68m1441 |
| Setname |
ehsl_novel_nam |
| ID |
1272679 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s68m1441 |
