Research progress of hereditary optic neuropathy associated with OPA gene mutations
10.3760/cma.j.cn511434-20240313-00103
- VernacularTitle:OPA基因突变相关遗传性视神经病变的研究进展
- Author:
Miao JIN
1
;
Libin JIANG
Author Information
1. 首都医科大学附属北京同仁医院 北京同仁眼科中心，北京 100730
- Keywords:
Nuclear gene;
Hereditary optic neuropathy;
Optic atrophy;
OPA gene mutation;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2024;40(7):554-559
- CountryChina
- Language:Chinese
-
Abstract:
Mutations in optic atrophy ( OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X- linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.
