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Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies
An outline of the genes and proteins underlying USH, their interactions and functions in the inner ear and retina, and the therapeutic strategies that are under investigation as potential treatments for this disease are provided.
Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
- M. Moosajee, M. Tulloch, R. Baron, C. Gregory‐Evans, J. Pereira-Leal, M. Seabra
- BiologyInvestigative ophthalmology & visual science
- 1 June 2009
It is proposed that in chm(-/-) zebrafish, maternally derived rep allows initial successful development of the embryo, but its gradual loss leads to multisystem disease and invariably to lethality.
The zebrafish eye—a paradigm for investigating human ocular genetics
This review presents an overview of human and zebra fish ocular development, genetic methodologies employed for zebrafish mutagenesis, relevant models of ocular disease, and finally therapeutic approaches, which may have translational leads in the future.
Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography
OCTA detected a reduced area with flow in both retinal and choroidal circulations, and may be a useful tool for monitoring natural history and disease progression in forthcoming clinical trials.
Clinical utility gene card for: Aniridia
- R. Richardson, M. Hingorani, V. Heyningen, C. Gregory‐Evans, M. Moosajee
- BiologyEuropean Journal of Human Genetics
- 6 July 2016
Deletion of regulatory elements, or their separation from the PAX6 transcription machinery through inversion or translocation breakpoints, may manifest with a classical aniridic phenotype.
Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease.
- M. Moosajee, K. Gregory-Evans, Charles D. Ellis, M. Seabra, C. Gregory‐Evans
- BiologyHuman molecular genetics
- 15 December 2008
The presence of either aminoglycoside during zebrafish development in vivo showed remarkable prevention of mutant ocular phenotypes in each model and a reduction in multisystemic defects leading to a 1.7-fold increase in survival.
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
- M. Toms, W. Pagarkar, M. Moosajee
- Medicine, BiologyTherapeutic advances in ophthalmology
- 1 January 2020
While there is currently no available approved treatment for the RP, various therapeutic strategies are in development or in clinical trials for Usher syndrome, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs.