Advances in genetic characterization and genes of juvenile open angle glaucoma
10.3980/j.issn.1672-5123.2024.6.08
- VernacularTitle:青少年型开角型青光眼的遗传特征和基因研究进展
- Author:
Dadong JIA
1
,
2
;
Feifei ZONG
1
,
2
;
Liang LIANG
1
,
2
Author Information
1. Department of Ophthalmology, the First College of Clinical Medical Science, China Three Gorges University
2. Institute of Ophthalmology and Visual Science, Yichang 443000, Hubei Province, China
- Publication Type:Journal Article
- Keywords:
juvenile open angle glaucoma;
gene mutation;
gene diagnosis;
gene therapy
- From:
International Eye Science
2024;24(6):884-889
- CountryChina
- Language:Chinese
-
Abstract:
Juvenile open angle glaucoma(JOAG)is a subtype of primary open angle glaucoma(POAG)that severely affects the quality of life of young patients and has a high disability rate. While JOAG is commonly considered an autosomal dominant disease, it has been found to have a diverse mode of inheritance, including autosomal recessive inheritance in specific populations. The variable genetic predisposition of JOAG may be attributed to the co-regulation of several key disease-causing genes, such as MYOC, CYP1B1, and CPAMD8. Mutations in these genes are closely associated with various biological processes in ocular tissues, including cellular metabolic regulation, oxidative stress response, and abnormal induction of programmed death. Therefore, a comprehensive study of the causative genes associated with JOAG is crucial to understanding the specific genetic background of disease onset, progression, and clinical phenotype. This knowledge will provide a strong foundation for early identification and screening of high-risk populations. The objective of this review is to focus on the genetic characterization and genetic studies of JOAG. Through a systematic review of the relevant literature, we summarize the causative genes and their mutations associated with JOAG and explore their potential applications and value in advancing research in the field, aiming to provide valuable insights for the diagnosis and treatment of JOAG.
