Mutations in the RHO gene are the main cause of dominant forms of retinitis pigmentosa (RP). RHO dictates the production of rhodopsin, a transmembrane protein present in large quantities in the outer segment of rod photoreceptor cells which, together with 11-cis-retinal, initiates the phototransduction cascade. Mutations in RHO often cause photoreceptor toxicity because they negatively affect the function of the...
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Gene therapies currently under study for retinal dystrophies are administered when viable photoreceptor able to be rescued at the functional level still remain. Most therapies are gene-specific and, in some cases, mutation-specific. In advanced disease stages, when a large number of photoreceptor cells have degenerated, the probability of success of these therapies is very low. Therefore, researchers are exploring methodologies...
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In the first months of 2020, positive results in gene therapy of X-linked retinitis pigmentosa (XLRP) have been reported. XLRP is an inherited genetic disorder that causes progressive vision loss, mainly in men. It begins in childhood with night blindness, progresses with the gradual reduction of the visual field and visual acuity, and leads to blindness in the fourth decade...
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A very recent study published in the scientific journal PNAS highlights an estimate, on a global scale, of the frequency of individuals carrying pathogenic mutations responsible for inherited retinal dystrophies (IRD) and illustrates the prevalence of this group of diseases. These data are highly relevant for genetic diagnosis, genetic counselling and the design of new therapies. The authors studied the...
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This February Moorfields Eye Hospital in London and Radcliffe Hospital in Oxford have started treating patients affected by Leber congenital amaurosis (LCA) with the Luxturna gene therapy. LCA is a childhood-onset severe retinal dystrophy, which causes irreversible blindness for which, until now, no treatment was available. Luxturna (voretigene neparvovec) is also the first gene therapy approved for the treatment of an...
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Not so far ago, a patient that was clinically diagnosed with a retinal inherited dystrophy had to face an unavoidable outcome, eventual blindness. No effective treatment to cure or halt the progression of the disease was available. This gloomy perspective has been completely upturned by the implementation of cutting edge technologies, and the future looks promising for patients and their...
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