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 |