Dr. Shiming Chen (Opthalmology & Visual Sciences  – Washington University) has an exciting new study  and  is recruiting CRX families.

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

Significant thickness losses could be detected in outer retinal layers by SD-OCT over a 24-month period in patients with PROM1-associated RD

Aim of present study: screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic arRP.

Many genes have been identified for the inherited and highly heterogeneous disorders - some are arRP, adRP and X-linked.

Researchers developed and phenotyped a pigmented knockout rat model for lecithin retinol acyltransferase (LRAT) using CRISPR/Cas9.

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

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

By: Glenn Yiu, MD, PhD - Department of Ophthalmology & Vision Science, University of California, Davis, Sacramento, California Ophthalmology

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

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

Sujun Li , Shyamtanu Datta , Emily Brabbit , Zoe Love , Victoria Woytowicz , Kyle Flattery , Jessica Capri , Katie Yao , Siqi Wu ,...

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

Sawar Zahid MS, MD, Kari Branham MS, CGC, Dana Schlegel MS, MPH, CGC, Mark E. Pennesi MD, PhD, Michel Michaelides MB, MD, John...

In this study, we totally investigated seven unrelated non-syndromic RD patients, including five RP and two LCA cases.

Phenotypic similarities to the retinal dysfunction assoc. with RPE65 mutations, suggest that LRAT deficiency may respond to novel therapies.

CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synapses of photoreceptors and cochlear hair cells,

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