Research progress on the molecular genetics and neuroscience of congenital cranial dysinnervation disorders
10.3980/j.issn.1672-5123.2024.8.10
- VernacularTitle:先天性脑神经异常支配眼病的分子遗传学与神经科学研究进展
- Author:
Jingjing YE
1
,
2
,
3
,
4
,
5
,
6
,
7
;
Mengdi WANG
1
,
2
,
3
,
4
,
5
,
6
,
7
;
Xuefeng SHI
1
,
2
,
3
,
4
,
5
,
6
,
7
Author Information
1. Tianjin Eye Hospital
2. Tianjin Eye Institute
3. Tianjin Key Laboratory of Ophthalmology and Visual Science, Tianjin 300020, China
4. Shandong University of Traditional Chinese Medicine, Jinan 250014, Shandong Province, China
5. Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine
6. Shandong Provincial Key Laboratory of Integrated Traditional Chinese and Western Medicine for Prevention and Therapy of Ocular Diseases
7. Shandong Academy of Eye Disease Prevention and Therapy, Jinan 250002, Shandong Province, China
- Publication Type:Journal Article
- Keywords:
congenital cranial dysinnervation disorders;
congenital fibrosis of the extraocular muscles;
congenital ptosis;
Duane's retraction syndrome;
horizontal gaze palsy with progressive scoliosis;
congenital facial weakness;
bius syndrome
- From:
International Eye Science
2024;24(8):1234-1239
- CountryChina
- Language:Chinese
-
Abstract:
Congenital cranial dysinnervation disorders(CCDDs)are a group of diseases with congenital non-progressive developmental abnormalities or absence of one or more cranial nerves, resulting in primary or secondary abnormalities of cranial nerves innervating the extraocular muscles. CCDDs can be sporadic or hereditary, and may be accompanied by systemic abnormalities. In recent years, with the research progress of neuropathology, neuroimaging, and genetics, it has not only been clarified that the cause of eye movement disorder in CCDDs is neurogenic, but also been found the pathogenic genes of CCDDs, including SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, and HOXB1, etc. In this review, the relevant domestic and international literatures on the molecular genetics and neuroscience of CCDDs in recent years are reviewed, aiming to address how the causing gene mutations of CCDDs affect brain neural development and further lead to congenital abnormal cranial nerve innervation, in order to provide references for the clinical and basic research of CCDDs.
