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About 4,273 results

ALLMedicine™ Retinitis Pigmentosa Center

Research & Reviews  1,601 results

First person - Michael Robichaux.
https://doi.org/10.1242/dmm.049558
Disease Models & Mechanisms;

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...

Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants A...
https://doi.org/10.1167/iovs.63.5.19
Investigative Ophthalmology & Visual Science; Wang J, Wang Y et. al.

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)...

PacMAGI: A Pipeline Including Accurate Indel Detection For The Analysis Of PacBio Seque...
https://doi.org/10.1016/j.gene.2022.146554
Gene Sorrentino E, Albion E et. al.

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...

Longitudinal microstructure changes of the retina and choroid in retinitis pigmentosa.
https://doi.org/10.1016/j.ajo.2022.05.002
American Journal of Ophthalmology; Yoon CK, Bae K et. al.

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 ...

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Drugs  1 results see all →

Clinicaltrials.gov  60 results

Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Advanced Vision Loss (Sirius)
https://clinicaltrials.gov/ct2/show/NCT05158296

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...

Characterizing Rate of Progression in USHer Syndrome (CRUSH) Study
https://clinicaltrials.gov/ct2/show/NCT04820244

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...

Study of SAR421869 in Participants With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B
https://clinicaltrials.gov/ct2/show/NCT01505062

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...

The Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT05203939

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.

An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT04868916

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...

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News  43 results

Optogenetics Scientists Take 2021 Lasker Prize for Basic Research 
https://www.medscape.com/viewarticle/959864

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...

A First: Blind Man's Sight Restored With Optogenetic Therapy
https://www.medscape.com/viewarticle/951799

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...

Optogenetic Tx Partially Restores Vision in Blind Man After 40 Years
https://www.medpagetoday.com/ophthalmology/generalophthalmology/92757

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 ...

Unsafe Ocular Stem Cell Treatments Prevalent
https://www.medscape.com/viewarticle/899932

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...

A Boy With Suddenly Failing Vision
https://www.medscape.com/viewarticle/895120_2

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...

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Patient Education  4 results see all →