Identifier |
20190321_nanos_currentconcepts1_04-abstract |
Title |
Congenital Cranial Dysinnervation Disorders |
Creator |
Gena Heidary, MD, PhD |
Affiliation |
Boston Children's Hospital, Boston, MA |
Subject |
Congenital Cranial Dysinnervation Disorders; Congenital Fibrosis of the Extraocular Muscles; Complex Strabismus |
Description |
Patients with congenital cranial dysinnervation disorders (CCDD) may present with complex strabismus secondary to dysinnervation of the extraocular muscles. (1-3) Among the CCDDs, congenital fibrosis of the extraocular muscles (CFEOM) is a group of strabismus disorders characterized by blepharoptosis and ophthalmoplegia. Animal models of CFEOM have revealed that the phenotype arises from dysinnervation of oculomotor and/or trochlear nerves (4-6). In humans, this dysinnervation manifests as incomitant strabismus with restriction of both vertical and also horizontal gaze. Historically, patients have been stratified into three phenotypes of CFEOM: 1, 2 and 3; since 2001, the genetic basis of these conditions has been identified. |
Date |
2019-03 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
2019 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 2019: Current Concepts in Eye Movement Disorders in Kids: Case-based Potpourri |
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/s6bs3711 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
1423211 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6bs3711 |