Association between photoreceptor gene mutation-caused diseases and myopia
10.3980/j.issn.1672-5123.2026.3.15
- VernacularTitle:光感受器基因突变所致疾病与近视的联系
- Author:
Yunqing LIANG
1
;
Jiali LI
1
;
Shanshan LIU
1
;
Xiaohe LU
1
Author Information
1. Department of Ophthalmology, Zhujiang Hospital of Southern Medical University, Guangzhou 510280, Guangdong Province, China
- Publication Type:Journal Article
- Keywords:
myopia;
photoreceptor;
gene mutation;
hereditary retinal disease;
retinitis pigmentosa;
cone dysfunction syndromes
- From:
International Eye Science
2026;26(3):452-457
- CountryChina
- Language:Chinese
-
Abstract:
Myopia has become a significant eye health problem, which is thought to result from the complex interactions of genetic and environmental factors. This review focuses on two types of hereditary retinal diseases caused by mutations in photoreceptor genes, including rod-cone cell dystrophy(retinitis pigmentosa)and cone dysfunction syndromes(achromatopsia, blue cone monochromatism and Bornholm eye disease). It systematically explores the intrinsic connection between these diseases and the myopia phenotype, and elaborates on the core mechanisms by which pathogenic genes such as RPGR and OPN1LW/OPN1MW, which cause defects in ciliary structure and protein transport and interfere with the visual signal pathway, jointly induce choroidal thinning and scleral remodeling, ultimately driving the elongation of axial length and the occurrence of myopia. By tracing the association of photoreceptor gene mutations with myopia, this article provides a new perspective for in-depth understanding of the genetic mechanism of myopia and is of great significance for the development of early risk warning and targeted intervention strategies.
