Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes

Update Item Information
Identifier 20200308_nanos_posters_165
Title Cone Rod Dystrophy - Two Associated Mutations, Two Different Phenotypes
Creator Jean-Philippe Woillez
Affiliation Centre Hospitalo universitaire de Lille, Lille, France
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: 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 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6s521qz
Setname ehsl_novel_nam
ID 1539392
Reference URL https://collections.lib.utah.edu/ark:/87278/s6s521qz
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