Sentences with phrase «retinal dystrophy»
"Retinal dystrophy" refers to a group of genetic eye diseases that can cause damage to the retina, the tissue at the back of the eye that sends visual signals to the brain. These conditions can lead to vision loss and may cause problems with seeing in low light, color vision, and overall visual clarity. Full definition
Part 2 of this two - part article reviews lessons from Spark Therapeutics» pivotal program for Luxturna, a gene therapy approved for the treatment of patients with retinal dystrophy associated with confirmed biallelic mutation in the RPE65 gene, and summarize key considerations for the clinical development and commercialization of gene therapies.
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The progression of retinal dystrophy in the RCS rat is such that by 13 weeks post-graft most of the ONL has disappeared [33] and the photoreceptor outer segment layer is reduced to a debris zone [40], a finding we observed in dystrophic controls.
Since the initial report the disease has also been described as having a progressive component leading to it also being called a hereditary retinal dystrophy [57].
• NightstaRx, a London - based biopharmaceutical company developing therapies for retinal dystrophies, raised $ 45 million in a Series C funding.
Scientists have been especially curious about the role of TTLLs because mutations in these proteins have been linked to a range of neurodegenerative diseases, including retinal dystrophy and the rare Joubert syndrome.
With good clinical results in treatment of genetic eye diseases (inherited retinal dystrophies) and Breakthrough Therapy Designation by FDA, the company rapidly progressed to Phase 3 pivotal trial.
Furthermore we analyse their functionality in vitro, and in vivo after transplantation of iPS - RPE into the dystrophic RCS rat: a model of retinal dystrophy where the primary defect, originating in RPE cells [26], leads to blindness as a consequence of rod and cone photoreceptor degeneration [27]--[29].
Primary peripheral retinal dystrophy: a certain type of developmental disease affecting the retina.
In terms of CRD (canine retinal dystrophy), the standard wire - haired dachshund, miniature long - haired dachshund (MLHD), Glen of Imaal terrier and pit bull terrier are the only dog breeds thus far affected, and the genes involved have been identified in all but pit bull terriers.»
Groups in Germany and the US have been testing electronic implants aimed at restoring vision to people with retinal dystrophy.
However CSNB and hereditary retinal dystrophy have since both been shown to be caused by a four nucleotide deletion in exon 5 of the RPE65 gene, indicating they are genetically identical conditions [58, 59].
In the retinal dystrophy Spark aims to treat with Luxturna, which the company estimates affects between 1,000 and 2,000 people in the U.S., mutations in a gene called RPE65 lead to impaired vision that deteriorates over time.