CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations

Objective: assess whether in a proof-of-concept study, oral synthetic 9 cis-retinyl acetate therapy improves vision in such advanced disease

Considering that EYS is the major causative gene of RP in Japan, researchers conducted stepwise genetic screening of 220 Japanese patients.

Subretinal gene therapy trials began with the discovery of RPE65 variants and their association with Leber congenital amaurosis.

RPGR Gene Therapy Shows Statistically Significant & Continued Vision Improvement

Molecular geneticists Susanne Roosing and Suzanne de Bruijn located the genetic defect that causes the eye disease retinitis pigmentosa.

University of California Television (UCTV) "The story of how CIRM-funded research helped preserve vision for Rosie Barrero, who was...

For over 30 years, geneticists at Radboudumc & the Donders Institute searched for the cause of vision impairment within a large Dutch family

We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features.

Investigate X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice

FAM161A is a microtubule-associated protein conserved widely across eukaryotes, which is mutated in the inherited blinding disease RP28.

The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the HK1 gene.

Discuss the recent advances, advantages and disadvantages of different CRB1 human and animal retinal degeneration models.

FDA granted 4th Orphan Drug Designation for novel gene therapy product candidate (OCU400, Ocugen Inc.) in treatment of PDE6B gene mutation.

Scheie Eye Institute | 51 North 39th Street | Philadelphia, PA 19104 | July 30, 2020 SUMMARY "Inherited retinal diseases (IRDs) refer to...

Retinal death can be caused by several genes. When there is an error in the CRB1 gene, some people become severely visually impaired.

Retinitis pigmentosa research probes role of the enzyme DHDDS in this genetic disease BIRMINGHAM, Ala. - Researchers who made a knock-in...

Lucy S. French, Carla B. Mellough, Fred K. Chen, and Livia S. Carvalho | Frontiers Cell. Neuroscience | 09 July 2020 | Sec. Cellular...

Mutations in PRPF31 cause many more cases of RP than do mutations in RPE65, the gene targeted by Spark Tx Luxturna, Harvard researchers say.

We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent . .