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About 4,350 results

ALLMedicine™ Retinitis Pigmentosa Center

Research & Reviews  1,632 results

Likely pathogenic structural variants in genetically unsolved patients with retinitis p...
https://doi.org/10.1136/jmedgenet-2022-108428
Journal of Medical Genetics; Sano Y, Koyanagi Y et. al.

Jun 17th, 2022 - Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carr...

Visual System Hyperexcitability and Compromised V1 Receptive Field Properties in Early-...
https://doi.org/10.1523/ENEURO.0107-22.2022
ENeuro Leinonen H, Lyon DC et. al.

Jun 15th, 2022 - Inherited retinal degenerative diseases are a prominent cause of blindness. Although mutations causing death of photoreceptors are mostly known, the pathophysiology downstream in the inner retina and along the visual pathway is incompletely charac...

The Effect of Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT05413148

Jun 14th, 2022 - Retinitis pigmentosa (RP) is one of the leading causes of vision loss and irreversible blindness. It is stated that 1.4 million people are affected in the world and its prevalence is 1:4000. Stem cell applications are methods that are increasingly...

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

Jun 14th, 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.

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retiniti...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122474
Molecular Vision; El-Asrag ME, Corton M et. al.

Jun 14th, 2022 - To describe the clinical phenotype and genetic basis of non-syndromic retinitis pigmentosa (RP) in one family and two sporadic cases with biallelic mutations in the transcription factor neural retina leucine zipper (NRL). Exome sequencing was perf...

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Drugs  1 results see all →

Clinicaltrials.gov  59 results

The Effect of Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT05413148

Jun 14th, 2022 - Retinitis pigmentosa (RP) is one of the leading causes of vision loss and irreversible blindness. It is stated that 1.4 million people are affected in the world and its prevalence is 1:4000. Stem cell applications are methods that are increasingly...

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

Jun 14th, 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.

4D-125 in Patients With X-Linked Retinitis Pigmentosa (XLRP)
https://clinicaltrials.gov/ct2/show/NCT04517149

Jun 8th, 2022 - This Phase 1/2 study will gather data in an observational phase Natural History Cohort to further characterize and evaluate natural disease progression in male patients with genetically-confirmed X-linked retinitis pigmentosa (XLRP) caused by muta...

A Study in Subjects With Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT05392179

May 26th, 2022 - An open-label Phase II clinical trial, 8 (eight) subjects with retinitis pigmentosa due to rhodopsin mutations (including P23H) will be identified and treated with serial intravitreal injections of ADX-2191 in the worse seeing eye. Ocular structur...

Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
https://clinicaltrials.gov/ct2/show/NCT03901391

May 20th, 2022 - This study is aimed to characterize Russian population of Retinitis Pigmentosa. Tasks: Stage 1. Formation of the primary cohort of patients. Patients pre-recruiting will be performed based on Deaf-Blind Support Foundation "Con-nection" patient dat...

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News  44 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 →