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Updated: Sep 2, 2025
12:11
A Rhodopsin Transport Assay by High-Content Imaging Analysis
Published on: January 16, 2019
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Gene Therapy for Rhodopsin Mutations
Alfred S Lewin1, W Clay Smith1
1Departments of Molecular Genetics and Microbiology and Ophthalmology, University of Florida College of Medicine, Gainesville, Florida 32610, USA.
Cold Spring Harbor Perspectives in Medicine
|August 8, 2022
Summary
Mutations in the rhodopsin gene cause autosomal-dominant retinitis pigmentosa (adRP). Gene therapies show promise for treating adRP by targeting the mutation or preserving photoreceptor cells.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Mutations in the rhodopsin gene (RHO) are a primary cause of autosomal-dominant retinitis pigmentosa (adRP).
- adRP presents with two main clinical phenotypes: early-onset, pan-retinal degeneration, and slowly progressive disease.
Purpose of the Study:
- To explore therapeutic strategies for RHO-adRP, including gene-level correction and photoreceptor preservation.
- To differentiate treatment approaches based on clinical presentation and disease progression.
Main Methods:
- Review of current and emerging gene therapy approaches targeting the RHO gene at DNA or RNA levels.
- Evaluation of strategies aimed at sustaining photoreceptor viability independent of mutation correction.
Main Results:
- Gene correction and mutant RNA replacement show promise in preclinical models.
- Photoreceptor-supportive therapies may delay central vision loss and preserve photoreceptors for future gene-directed treatments.
Conclusions:
- Therapeutic strategies for RHO-adRP should be tailored to clinical phenotypes.
- Both direct genetic correction and photoreceptor preservation offer potential avenues for treating this inherited retinal disease.
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