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Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies

Authors :
Fangyuan Zhen
Tongdan Zou
Ting Wang
Yongwei Zhou
Shuqian Dong
Houbin Zhang
Source :
Frontiers in Neuroscience, Vol 17 (2023)
Publication Year :
2023
Publisher :
Frontiers Media S.A., 2023.

Abstract

Rhodopsin is a light-sensitive G protein-coupled receptor that initiates the phototransduction cascade in rod photoreceptors. Mutations in the rhodopsin-encoding gene RHO are the leading cause of autosomal dominant retinitis pigmentosa (ADRP). To date, more than 200 mutations have been identified in RHO. The high allelic heterogeneity of RHO mutations suggests complicated pathogenic mechanisms. Here, we discuss representative RHO mutations as examples to briefly summarize the mechanisms underlying rhodopsin-related retinal dystrophy, which include but are not limited to endoplasmic reticulum stress and calcium ion dysregulation resulting from protein misfolding, mistrafficking, and malfunction. Based on recent advances in our understanding of disease mechanisms, various treatment methods, including adaptation, whole-eye electrical stimulation, and small molecular compounds, have been developed. Additionally, innovative therapeutic treatment strategies, such as antisense oligonucleotide therapy, gene therapy, optogenetic therapy, and stem cell therapy, have achieved promising outcomes in preclinical disease models of rhodopsin mutations. Successful translation of these treatment strategies may effectively ameliorate, prevent or rescue vision loss related to rhodopsin mutations.

Details

Language :
English
ISSN :
1662453X
Volume :
17
Database :
Directory of Open Access Journals
Journal :
Frontiers in Neuroscience
Publication Type :
Academic Journal
Accession number :
edsdoj.677bc11b5840c99d6b67ffeb16c168
Document Type :
article
Full Text :
https://doi.org/10.3389/fnins.2023.1132179