Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes

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Identifier 20200308_nanos_posters_165
Title Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes
Creator Jean-Philippe Woillez
Subject Genetic disease, Diagnostic tests (ERG, VER, OCT, HRT, mfERG, etc), Eyelid & adnexal disease, Visual fields, Perimetry, Miscellaneous
Description Cone rod dystrophy is a rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.
Date 2020-03
Language eng
Format application/pdf
Type Text
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights
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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6s521qz
Context URL The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/
Contributor Primary Jean-Philippe Woillez
Setname ehsl_novel_nam
ID 1539392
Reference URL https://collections.lib.utah.edu/ark:/87278/s6s521qz
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