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USH2A-retinopathy: From genetics to therapeutics
Lyes Toualbi1, Maria Toms1, Mariya Moosajee2
1Development, Ageing and Disease, UCL Institute of Ophthalmology, London, EC1V 9EL, UK; Ocular Genomics and Therapeutics Laboratory, The Francis Crick Institute, London, NW1 1AT, UK.
Experimental Eye Research
|October 30, 2020
Summary
USH2A gene variants cause Usher syndrome type 2 and retinitis pigmentosa, leading to vision loss. Emerging therapies show promise, but more research is needed for effective treatments and clinical trials.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Biallelic variants in the USH2A gene are associated with Usher syndrome type 2 and non-syndromic retinitis pigmentosa.
- These genetic conditions result in progressive photoreceptor degeneration, causing night blindness, visual field constriction, and eventual central vision loss.
- The USH2A gene presents significant challenges due to its large size, diverse mutations, and limited understanding of pathogenicity, hindering therapeutic development.
Purpose of the Study:
- To review current knowledge on USH2A-related disorders, including their genetic basis and clinical manifestations.
- To discuss emerging therapeutic strategies and their preclinical evidence.
- To highlight the challenges in developing treatments and designing clinical trials for USH2A-related retinopathies.
Main Methods:
- Literature review of scientific publications on USH2A gene variants, Usher syndrome type 2, and retinitis pigmentosa.
- Analysis of preclinical studies on potential therapeutic interventions.
- Synthesis of information regarding genetic challenges, pathogenicity, and clinical trial design.
Main Results:
- USH2A variants lead to a spectrum of retinal phenotypes, primarily characterized by progressive vision loss.
- Current treatment options for USH2A-retinopathy are limited, with no approved therapies available.
- Promising preclinical results have been observed for antisense oligonucleotides and translational readthrough-inducing drugs.
Conclusions:
- Further research into the pathogenesis and natural history of USH2A-related disorders is crucial.
- Development of innovative treatments and reliable outcome measures is necessary for future clinical trials.
- Addressing the genetic and technical challenges associated with the USH2A gene is essential for advancing therapeutic strategies.
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