Eye diseases associated with developmental abnormality of neural crest
10.3980/j.issn.1672-5123.2024.1.10
- VernacularTitle:神经嵴发育异常相关眼病
- Author:
Jing LI
1
,
2
,
3
,
4
,
5
;
Zhongxu MA
1
,
2
,
3
,
4
,
5
Author Information
1. Clinical College of Ophthalmology, Tianjin Medical University
2. Nankai University Affiliated Eye Hospital
3. Tianjin Eye Hospital
4. Tianjin Eye Institute
5. Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
neural crest;
eye diseases associated with developmental abnormality of neural crest;
gene mutation
- From:
International Eye Science
2024;24(1):53-57
- CountryChina
- Language:Chinese
-
Abstract:
The neural crest represents a dynamic population of embryonic stem cells, playing a pivotal role in the development of the eye. Through interactions with the surrounding neuroectoderm, superficial ectoderm and mesoderm, the neural crest contributes to the formation of numerous ocular structures, encompassing the corneal stroma and endothelium, trabecular meshwork, iris stroma, ciliary muscle, vitreous and choroidal vessels, and Müller cells. Aberrant migration and development of neural crest cells within the eye can instigate a complex series of ocular diseases. Such diseases include anterior segment like Axenfeld-Rieger syndrome, Peters anomaly, aniridia, primary congenital glaucoma, and Nail-Patella syndrome. Defects that impact the posterior segment may lead to CHARGE syndrome and Branchio-oculo-facial syndrome. Further, rare neurocristopathies such as Waardenburg syndrome, Treacher-Collins syndrome, and Char syndrome can also present with ocular abnormalities. In this review, we explore the ocular diseases that arise from abnormal neural crest cell development, and delve into the related genes involved in neural crest migration and development. We further discuss how mutations and defects in these genes can precipitate ocular diseases.
