ALLMedicine™ Retinitis Pigmentosa Center

May 20th, 2022 - First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Michael Robichaux is first author on ' Sub...

May 19th, 2022 - To assess the clinical characteristics of comorbid retinal dystrophies and primary angle closure disease. Retrospective study from January 1992 to June 2020. This descriptive study included 92 eyes of 46 patients with comorbid retinal dystrophies ...

May 18th, 2022 - Heterozygous truncating variants of TOPORS have been reported to cause autosomal dominant retinitis pigmentosa (adRP). The purpose of this study was to investigate whether all heterozygous truncating variants, including copy number variants (CNVs)...

May 16th, 2022 - Third generation sequencing methods, like PacBio, provide information about structural variants, introns, enhancers and promoters. We developed an automated pipeline, called PacMAGI, including quality control, alignment, SNV, INDELs, structural va...

May 14th, 2022 - To investigate longitudinal changes in the retinal and choroidal microstructure of the macula in patients with retinitis pigmentosa (RP). Retrospective, observational cohort study METHODS: : Sixty-nine patients with RP and same number of age- and ...

May 4th, 2022 - The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with advanced vision lo...

Apr 29th, 2022 - Mutations in USH2A give rise to two phenotypes: Usher syndrome type 2a (USH2A) and nonsyndromic RP (USH2A associated nsRP). Usher syndrome is the most common form of congenital deafblindness. Patients with Usher syndrome are hearing impaired or pr...

Apr 28th, 2022 - Following screening procedures, the gene transfer agent were injected once only under the retina by an opthalmic surgeon under anesthesia. Participants then had regular follow-up visits where general health examinations, blood tests and ophthalmic...

Apr 27th, 2022 - This study is designed to evaluate the safety of ascending doses of OCU400 in subjects with retinitis pigmentosa associated with NR2E3 and RHO mutations.

Apr 27th, 2022 - The purpose of the study is to identify a cohort of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene and to investigate their associated ph...

Sep 28th, 2021 - Three researchers who have been integral to the discovery and development of using light-sensitive proteins to determine the function of neurons ­— and possibly control them — have won the 2021 Albert Lasker Basic Medical Research Award. The techn...

May 25th, 2021 - The vision of a man who lost his sight because of retinitis pigmentosa (RP) has been partially restored with optogenetic therapy in the first reported case of functional recovery in a neurodegenerative disease following this novel treatment. "It w...

May 24th, 2021 - Optogenetic therapy restored partial vision in a blind 58-year-old man diagnosed with retinitis pigmentosa almost 40 years ago, according to a case report from the ongoing PIONEER study. In this open-label phase I/IIa study, intraocular injection ...

Jul 27th, 2018 - VANCOUVER, Canada — Experimental stem cell therapies for eye conditions are being offered at dozens of unregulated clinics in the United States, and some of these procedures are harmful, researchers report. Clinicians should warn their patients ag...

Apr 18th, 2018 - Case Diagnosis X-linked retinoschisis (XLRS), an inherited mutation that causes early-onset retinoschisis, or splitting of the retina, is the correct diagnosis. The affected RS1 gene, which encodes the protein retinoschisin, causes a disruption of...