Although the IRD patient population is small compared with other retinal conditions, the research on novel therapeutic approaches is not.

Here, we report results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy

Eluminex announced today it acquired rights for a novel oral therapy to treat LCA or RP caused mutations of the RPE65 or LRAT gene.

Existing treatments only help a fraction of the estimated 100,000 Americans with this condition. But advances in gene therapy may soon help.

Consensus guidelines were developed to guide paediatricians and general ophthalmologists to arrive at the correct diagnosis of RPE65-associa

Ana B. Garcia-Delgado , Lourdes Valdes-Sanchez , Maria Jose Morillo-Sanchez , Beatriz Ponte-Zuñiga , Francisco J. Diaz-Corrales , Berta...

This review provides an overview of retinal gene therapy development by summarizing significant contributions and important clinical trials.

RPE65-related LCA pivotal trials, . . . have paved the way for a new era of genetic treatments in ophthalmology.

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

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

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

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

The gene therapy is for patients who have retinal dystrophy as a result of inheriting a faulty copy of the RPE65 gene from both parents.

This study aims to evaluate the association between changes in visual function and application of gene therapy in patients with RPE65-LCA.

In 1972, Friedman and Roblin proposed that it was theoretically possible to introduce “good” DNA to replace defective DNA.

In 2017, the FDA approved a gene therapy for RP caused by RPE65. The decision marked the first approved treatment for any form RP.

Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .

Leber's congenital amaurosis (LCA) is the earliest, most severe form of inherited retinal dystrophies responsible for congenital blindness.

Explore the possible role that defects in RPE65 might play in the etiology of retinal degenerations