Papilledema, Papillitis, or Papillopathy? - Optic Disc Findings in a Child With Alstrom Syndrome

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Identifier 20220217_nanos_complexcases1_04
Title Papilledema, Papillitis, or Papillopathy? - Optic Disc Findings in a Child With Alstrom Syndrome
Creator Melinda Y. Chang
Affiliation Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA
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
Format Creation Microsoft PowerPoint
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: 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
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
Setname ehsl_novel_nam
ID 2192135
Reference URL https://collections.lib.utah.edu/ark:/87278/s6v20k6w
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