Identifier |
20170402_nanos_posters_032 |
Title |
Infantile presentation of Leber's hereditary optic neuropathy ‘plus' disease |
Creator |
Helena Zakrzewski |
Subject |
Genetic Disease, Optic neuropathy, Pediatric neuro-ophthalmology |
Description |
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease most often leading to bilateral centroceccal scotoma secondary to preferential loss of papillomacular bundle nerve fibers. Clinical studies suggest that LHON may; be a systemic disease (‘plus' disease) occasionally associated with neurological, cardiac, and skeletal manifestations. Reports of infantile onset of LHON are rare and LHON ‘plus' disease has yet to be described in infancy. We present the case of a 3 year old boy with infantile onset of LHON ‘plus' disease. |
Date |
2017 |
Language |
eng |
Format |
application/pdf |
Relation is Part of |
NANOS 2017: Poster Presentations |
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 |
ARK |
ark:/87278/s63v3b7g |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Contributor Primary |
Helena Zakrzewski |
Contributor Secondary |
Walla Al-Hertani, Milad Modabber, Daniela Toffoli |
Setname |
ehsl_novel_nam |
ID |
1272688 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s63v3b7g |