Identifier |
20190319_nanos_posters_196 |
Title |
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCL-S): Description of a New Pedigree |
Creator |
Matthew Wieder, Thomas Slamovits, Phyllis Faust, Richard Hickman, David Monoky, John Atkinson, Joanna Jen, Joyce Mbekeani |
Subject |
Genetic Disease; Neuro-Ophth & Systyemic Disease (eg. MS, MG, Thyroid); Vascular Disorders |
Description |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations(RVCL-S), a rare autosomal dominant disorder caused by a TREX-1 (3p21) mutation,results in progressive occlusive microangiopathy, leading to visual deterioration,neurologic deficits and variable systemic disorders in middle age. To date, 34 unrelatedfamilies have been described worldwide. RVCL-S is under-recognized and oftenmisdiagnosed as multiple sclerosis. We describe manifestations of the V235Gfs*6,TREX-1 genetic variant in a new pedigree. |
Date |
2019-03 |
Language |
eng |
Format |
application/pdf |
Source |
2019 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NAM 2019: Poster Session II: Scientific Advancements in Neuro-Ophthalmology |
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 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6324dn4 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Contributor Primary |
Matthew Wieder |
Contributor Secondary |
Thomas Slamovits, Phyllis Faust, Richard Hickman, David Monoky, John Atkinson, Joanna Jen, Joyce Mbekeani |
Setname |
ehsl_novel_nam |
ID |
1432854 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6324dn4 |