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The European Commission (EC) approves “Luxturna” (voretigene neparvovec), a recently developed gene therapy product to treat Leber congenital amaurosis (RPE65 mutations)

A commercial gene therapy company, Spark Therapeutics (NASDAQ:ONCE), announced that Committee for Medicinal Products for Human Use (CHMP), of the European Medicines Agency (EMA), has granted marketing authorization for “Luxturna” (voretigene neparvovec), the treatment of adult and pediatric patients with vision loss due to an inherited retinal dystrophy, Leber congenital amaurosis (LCA). Spark will manufacture and supply the […]

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Visual impairment appears to be adversely associated with cognition – the Salisbury Eye Evaluation Study

Researchers from the University of Miami, in collaboration with Johns Hopkins University, demonstrate that vision loss precedes a loss of mental capacity, suggesting that maintaining eye health could protect cognition in older adults. An estimated of 5.4 million US individuals, 71 years or older, have cognitive impairment without dementia. Cognitive impairment leads to a decreased quality […]

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UK and US researchers report a retinopathy associated with a dominant allele of the RGR gene

Researchers based at the UCL Institute of Ophthalmology, London and in Moorfields Eye Hospital, also in London, have shown clinical features in two pedigrees with dominantly inherited retinopathy in the “RGR” gene, encoded by a RPE-retinal G protein-coupled receptor protein. A previously reported frame-shifting mutation, c.836dupG (p.Ile280Asn*78) was identified in the terminal exon of the […]

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