Study demonstrates effectiveness of different doses of NR2E3 at reducing retinal degeneration and informs dose selection for clinical trials

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

A multi-center, chart review of 100 patients with RHO-associated adRP. Based on central visual fields, the optimal window of intervention is

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

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

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

For arRP and X-linked retinal degenerations, significant progress has been achieved in the field of gene therapy as evidenced by . . .

The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.

We studied 24 families with inherited retinal degenerations for mutations in the genes PDE6B, MYL5, PDE6C, CNCG, RHO, ROM1, RDS-peripherin.

With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families.