[关键词]
[摘要]
青少年型开角型青光眼(JOAG)是原发性开角型青光眼(POAG)的一个亚型，具有较高的致残率，严重影响年轻患者的生活质量。研究发现JOAG有着多样化的遗传方式，虽然JOAG通常被认为是一种常染色体显性遗传疾病，但在特定人群中，常染色体隐性遗传同样存在。而JOAG的多变遗传倾向可能是由多个关键致病基因共同调控的结果，其中包括MYOC、CYP1B1和CPAMD8等代表性基因。这些基因的突变通常与眼部组织的多种生物学过程密切相关，主要包括细胞代谢调控、氧化应激反应以及程序性死亡的异常诱导。因此，深入研究JOAG相关的致病基因至关重要，这将为揭示该疾病的发生、发展及临床表型的具体遗传背景，并且为早期识别和筛查高风险人群提供有力依据。文章旨在重点关注JOAG的遗传特征和基因研究。通过系统性回顾相关文献，总结了与JOAG疾病相关的致病基因及其突变，并探讨其在JOAG研究领域未来发展中的潜在应用和价值，为JOAG的诊断和治疗提供有益的见解。
[Key word]
[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.
[中图分类号]
[基金项目]
国家自然科学基金资助项目(No.81770920); 眼科学国家重点实验室开放课题(No.303060202400383)
