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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Achromatopsia is a disorder that affects one in every 30,000 people and is characterized by the partial or total absence of colour vision due to lack of function of cones, one type of retinal cells. Achromatopsia patients have other visual problems such as extreme sensitivity to light (photophobia), uncontrollable and involuntary eye movements (nystagmus) and decreased visual acuity. Achromatopsia is...
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Age-related macular degeneration (AMD) is one of the most common disease of the retina and the main cause of vision loss in adults over 60 years. It is estimated that 3 million people worldwide are affected, and its incidence increases as life expectancy grows in developed countries. AMD is a progressive disease that affects the macula, the area near the...
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The end result of many retinal dystrophies is photoreceptor cell death and the irreversible loss of vision. To prevent the progressive loss of retinal neurons, and to slow down or reverse the progression of the disease, gene therapies are currently under study to correct or replace the altered genes responsible for different retinopathies. Another therapeutic strategy that is under intensive...
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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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