Gene Therapy to the Retina and the Cochlea
Frontiers in Neuroscience, 2021 Vision and hearing disorders comprise the most common sensory disorders found in people. Many forms of vision and hearing loss are inherited and current treatments only provide patients with temporary or partial relief.
Ryan Crane +8 more
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Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]
, 2006 PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir +6 more
core +1 more source
Therapeutic landscape for inherited ocular diseases: current and emerging therapies
Singapore Medical Journal, 2023 Inherited ocular diseases comprise a heterogeneous group of rare and complex diseases, including inherited retinal diseases (IRDs) and inherited optic neuropathies.
Hwei Wuen Chan, Jaslyn Oh, Bart Leroy
doaj +1 more source
The Evolution of Fabrication Methods in Human Retina Regeneration
Applied Sciences, 2021 Optic nerve and retinal diseases such as age-related macular degeneration and inherited retinal dystrophies (IRDs) often cause permanent sight loss. Currently, a limited number of retinal diseases can be treated.
Beatrice Belgio +3 more
doaj +1 more source
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
, 2003 BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
core +1 more source
Telegenetics for inherited retinal diseases in the COVID-19 environment
International Journal of Retina and Vitreous, 2021 Inherited retinal diseases (IRDs) are visually debilitating conditions that affect families worldwide. They require extensive clinical testing, examination, and patient and family counseling, which are frequently accomplished over single-day extended ...
Ahmad Al-Moujahed +4 more
doaj +1 more source
Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]
, 2017 Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio +6 more
core +1 more source
Retinal neovascularization induced by mutant Vldlr gene inhibited in an inherited retinitis pigmentosa mouse model: an in-vivo study [PDF]
International Journal of Ophthalmology, 2021 AIM: To explore whether the retinal neovascularization (NV) in a genetic mutant mice model could be ameliorated in an inherited retinitis pigmentosa (RP) mouse, which would help to elucidate the possible mechanism and prevention of retinal NV diseases in
Wei-Ming Yan +7 more
doaj +1 more source
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290 [PDF]
, 2018 Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.
Bertelsen, Mette +16 more
core +3 more sources
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley +3 more
doaj +1 more source