| Identifier |
20220217_nanos_complexcases1_04 |
| Title |
Papilledema, Papillitis, or Papillopathy? - Optic Disc Findings in a Child With Alstrom Syndrome |
| Creator |
Melinda Y. Chang, MD |
| Subject |
Optic Disc Neovascularization; Fluorescein Angiography; Inherited Retinal Disease; Alstrom Syndrome |
| Description |
Alstrom syndrome is an autosomal recessive inherited retinal disease (IRD) due to mutations in the ALMS1 gene.1 The disorder is a ciliopathy that manifests initially as a cone-rod dystrophy. Systemic manifestations include diabetes mellitus, cardiomyopathy, obesity, hearing loss, and hepatic and renal dysfunction. Infants with Alstrom syndrome may present to pediatric ophthalmologists or pediatric neuro-ophthalmologists with nystagmus, photophobia, and poor vision. |
| Date |
2022-02 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2022: Complex Cases in Pediatric Neuro-Ophthalmology: Avoiding Mimickers, Missteps, and Misdiagnosis |
| 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 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6v20k6w |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Contributor Primary |
Melinda Y. Chang, MD |
| Setname |
ehsl_novel_nam |
| ID |
2192135 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6v20k6w |
