We performed genetic studies in several RP17 families with rod–cone dystrophy and identified several mutations in the CA4 gene.

Giuseppe Bonapace, Abdul Waheed, Gul N Shah, William S Sly |  Proc National Academy Science  | 2004 Aug 17 | Vol. 101, Issue 33 | 12300-5...

RPGR mutations were assessed in families with XLRP and a strategy for analyzing highly repetitive mutational hot spots in exon ORF15.

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

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.