| 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 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2023 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS Annual Meeting 2023: Scientific Platform Session I |
| 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 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6nwss4h |
| Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
| Setname |
ehsl_novel_nam |
| ID |
2309945 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6nwss4h |
