Congenital Cranial Dysinnervation Disorders (Video)

Update item information
Identifier 20190321_nanos_currentconcepts1_04
Title Congenital Cranial Dysinnervation Disorders (Video)
Creator Gena Heidary, MD, PhD
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.
Relation is Part of NANOS 2019: Current Concepts in Eye Movement Disorders in Kids: Case-based Potpourri
Contributor Primary Gena Heidary, MD, PhD
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2019-03
Format video/mp4
Source 2019 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s62z5pm1
Setname ehsl_novel_nam
Date Created 2019-07-11
Date Modified 2019-08-01
ID 1431919
Reference URL https://collections.lib.utah.edu/ark:/87278/s62z5pm1
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