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Published on: May 5, 2020
Recent progress in understanding congenital cranial dysinnervation disorders
Darren T Oystreck1, Elizabeth C Engle, Thomas M Bosley
1Department of Ophthalmology, College of Medicine, King Saud University, and King Abdulaziz University Hospital, Riyadh, Saudi Arabia. darrenoystreck@ymail.com
Summary
Congenital cranial dysinnervation disorders (CCDDs) are primarily neurogenic, stemming from brainstem or cranial nerve maldevelopment. Recent research confirms this, identifying more genes and phenotypes, and revealing nonophthalmologic associations.
Area of Science:
- Ophthalmology
- Neurology
- Genetics
Background:
- The term congenital cranial dysinnervation disorder (CCDD) was proposed in 2002, shifting focus from muscle to primary neurologic maldevelopment.
- This update reviews evidence supporting the neurogenic basis of CCDDs, building on findings from 2003-2010.
Purpose of the Study:
- To provide an updated overview of congenital cranial dysinnervation disorders (CCDDs).
- To summarize recent advances in understanding the genetic and clinical spectrum of CCDDs.
Main Methods:
- Literature review of articles published between January 2003 and June 2010.
- Search terms included congenital fibrosis of the extraocular muscles, CCDDs, and related phenotypes.
Main Results:
- Currently, 7 disease genes and 10 phenotypes are classified under the CCDD umbrella.
- Advances in neuroimaging and gene identification have enhanced understanding of anomalous eye movement mechanisms.
- Additional CCDD loci and phenotypes await further gene elucidation.
Conclusions:
- Evidence continues to support CCDDs as primarily neurogenic, originating from brainstem or cranial nerve development issues.
- Several CCDDs exhibit nonophthalmologic associations, including neurological, cardiovascular, and skeletal abnormalities.
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