Advances in the pathogenicity of IMPG2 gene variations and related research
10.3760/cma.j.cn115989-20240117-00020
- VernacularTitle:IMPG2基因变异致病性及相关研究进展
- Author:
Huixin LIU
1
;
Ruifang SUI
1
Author Information
1. 北京协和医院眼科 北京协和医学院 中国医学科学院，北京 100730
- Publication Type:Journal Article
- Keywords:
IMPG2;
Retinitis pigmentosa;
Vitelliform macular dystrophy;
Pathogenic mechanism
- From:
Chinese Journal of Experimental Ophthalmology
2025;43(7):665-669
- CountryChina
- Language:Chinese
-
Abstract:
IMPG2 gene variations can cause inherited retinal dystrophy (IRD).The clinical phenotypes of IMPG2 related IRD are heterogeneous, including retinitis pigmentosa, vitelliform macular dystrophy and occasionally Stargardt-like macular dystrophy.There is a certain correlation between the variation type and the clinical phenotype.The compound heterozygous/homozygous IMPG2 variations predominantly cause autosomal recessive retinitis pigmentosa, while heterozygous mutations is typically associated with autosomal dominant vitelliform macular dystrophy showing incomplete dominance.IMPG2 expressed by retinal photoreceptors encodes interphotoreceptor matrix, though its pathogenesis remains unclear.Studies suggest variations may cause mislocalization of matrix components, aberrant energy metabolism and impaired autophagy in the retina.This review summarizes IMPG2-related IRD phenotypes and advances in pathogenic mechanisms, providing theoretical support for clinical diagnosis, therapy and research.
