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Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies
Fangyuan Zhen1,2, Tongdan Zou2, Ting Wang2
1Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Henan Provincial Ophthalmic Hospital, Zhengzhou, China.
Frontiers in Neuroscience
|April 20, 2023
Summary
Mutations in the rhodopsin gene (RHO) cause autosomal dominant retinitis pigmentosa (ADRP) through complex mechanisms. Emerging therapies like gene therapy show promise for treating vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Rhodopsin is a G protein-coupled receptor crucial for vision in rod photoreceptors.
- Mutations in the rhodopsin gene (RHO) are the primary cause of autosomal dominant retinitis pigmentosa (ADRP).
- Over 200 RHO mutations are known, indicating diverse pathogenic mechanisms.
Purpose of the Study:
- To summarize the pathogenic mechanisms of rhodopsin mutations.
- To review current and emerging therapeutic strategies for rhodopsin-related retinal dystrophies.
Main Methods:
- Review of representative RHO mutations and associated disease mechanisms.
- Discussion of current and novel therapeutic approaches.
Main Results:
- RHO mutations lead to retinal dystrophy via protein misfolding, mistrafficking, and malfunction, causing endoplasmic reticulum stress and calcium dysregulation.
- Existing treatments include adaptation and electrical stimulation; novel strategies like gene therapy and stem cell therapy show promise.
Conclusions:
- Understanding rhodopsin mutation mechanisms is key to developing effective treatments.
- Innovative therapies offer hope for ameliorating, preventing, or rescuing vision loss in ADRP patients.
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