Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders

被引：14
|
作者：
Vivian, Anthony J. [1 ,2 ]
机构：
[1] Addenbrookes Hosp, Cambridge, England
[2] West Suffolk Hosp NHS Trust, Eye Treatment Ctr, Bury St Edmunds, Suffolk, England
来源：
EYE | 2020年 / 34卷 / 02期
关键词：
EXTRAOCULAR-MUSCLES; MUTATIONS; PHOX2A; KIF21A;
D O I：
10.1038/s41433-019-0700-z
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Congenital fibrosis of the extraocular muscles (CFEOM) is one of the congenital cranial dysinnervation disorders (CCDDs). This review discusses the characteristics of the CFEOM phenotypes and the CCDDs, the fibrosis associated with these disorders and the processes, and genes involved in the embryological development of cranial neuromuscular units. In particular, it focuses on the genetics of neural crest identity, axon guidance, and axon construction in relation to the CFEOMs and some consideration of treatment strategies.
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页码：251 / 255
页数：5
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