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.

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

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