QR-1123 is a first-in-class investigational oligonucleotide designed to address the underlying cause of the vision loss associated with autosomal dominant retinitis pigmentosa
(adRP) due to the P23H mutation in the rhodopsin (RHO) gene.
In the study, detailed in the Proceedings of the National Academy of Sciences, the team used a viral vector to express a light sensitive protein, melanopsin, in the residual retinal cells in mice which were blind from retinitis pigmentosa
Usher syndrome type 2a is an autosomal recessive genetic condition characterised by hearing loss from birth and progressive vision loss, due to retinitis pigmentosa
, that begins in adolescence or adulthood.
The other initiative is Medical and Research programme which is serving as a focal point for dissemination of information to affected families, specialists and the society at large about genetically inherited eye diseases such as Retinitis Pigmentosa
(RP) and Allied Retinal Dystrophies.
Ophthalmology company Bascom Palmer Eye Institute stated on Wednesday that a Puerto Rican patient with X-linked retinitis pigmentosa
(XLRP) is undergoing the innovative gene therapy procedure at the University of Miami Miller School of Medicine.
Berson, M.D., from Harvard Medical School in Boston, and colleagues conducted a nonrandomized comparison study involving children with retinitis pigmentosa
taking or not taking vitamin A supplementation (55 and 25, respectively).
"We expect to demonstrate that we can restore vision in patients who have lost their sight due to all forms of retinitis pigmentosa
and potentially to dry macular degeneration," Dr Gilly said.
Clinical findings and common symptoms in retinitis pigmentosa
. Am J Ophthalmol.
To this day, molecular research has found and identified a huge number of mutations in genes associated with retinitis pigmentosa
. However, molecular research suggests that different mutations involved in RP largely share a common functional or structural abnormality [9, 10].
, LCA, Consanguineous marriage, CRB1 gene, Kashmiri.
The widespread custom of consanguineous marriages in South Asian countries puts the population at risk for autosomal recessive disorders including retinitis pigmentosa