| Identifier |
20230312_nanos_posters_214 |
| Title |
Optic Atrophy and Early-Onset Diabetes in a Young Patient |
| Creator |
Ruben Jauregui; Nicolas Abreu; Scott Grossman |
| Affiliation |
(RJ) (NA) (SG) NYU Grossman School of Medicine |
| Subject |
Pediatric Neuro-ophthalmology; Optic Neuropathy; Genetic Disease |
| Description |
Wolfram syndrome (WS) is typically an autosomal recessive disorder caused by biallelic variants in WFS1 or CISD2. WS is characterized clinically by the presence of diabetes mellitus (DM) and bilateral optic atrophy (OA) early in life.1, 2 Diabetes insipidus (DI) and deafness can also be present and complete the classical tetrad of "DIDMOAD," while additional neurological and psychiatric pathology can develop later in life.1, 2 Here we describe a patient with DM presenting with profound vision loss, prompting evaluation for WS. |
| Date |
2023-03-14 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2023 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Poster Session I: Pediatric Neuro-Ophthalmology |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
| Rights Management |
Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s62dwp4g |
| Setname |
ehsl_novel_nam |
| ID |
2335419 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s62dwp4g |
