NOVEL - NANOS Annual Meeting

Chiasmal Misrouting in Infantile Nystagmus Syndrome (INS): Phenotypes in Patients With Molecular Diagnoses

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Identifier 20230313_nanos_sciplatform1_03
Title Chiasmal Misrouting in Infantile Nystagmus Syndrome (INS): Phenotypes in Patients With Molecular Diagnoses
Creator Michael James Gilhooley; Mariya Moosajee; Maria Theodorou; Magella M. Neveu
Affiliation (MJG) (MT) (MMN) Moorfields Eye Hospital; (MM) University College London
Subject Diagnostic Tests (ERG, VER, OCT, HRT, mfERG, etc); Genetic Disease; Nystagmus
Description Chiasmal misrouting, once believed to be pathognomonic for albinism, has been reported in cases of INS, independent of melanin pathway disruption. The purpose of this study is to test the hypothesis that there are clinical-electrophysiological parameters that correlate with particular genotypes in INS.
Date 2023-03
References None provided.
Language eng
Format video/mp4
Type Image/MovingImage
Source 49th Annual North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2023: Scientific Platform Session I: https://novel.utah.edu/collection/NAM/toc/
Collection Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890
Rights Management Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6gnhh5e
Setname ehsl_novel_nam
ID 2385968
Reference URL https://collections.lib.utah.edu/ark:/87278/s6gnhh5e
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