This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain . . .

Purpose: identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with RP in Chinese families.

Coave Therapeutics enters into an exclusive licensing, co-development, and commercialization agreement with Théa Pharma.

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

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

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

Compares genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B

Regulates ciliary localization of Joubert syndrome-associated protein INPP5E Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, and...

RPGR as a critical to cilia and suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6B.

The third-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiesterase-6 (PDE6).

Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1

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.