Molecular studies of phenotype variation in canine RPGR-XLPRA1.

Abstract

Lack of association between haplotypes of RAB8A, RPGRIP1L, CEP290, CC2D2A, DFNB31, and RAB11B and the disease phenotype suggests that these genes are not genetic modifiers of XLPRA1. Upregulation of GFAP, an established indicator of the Müller cell gliosis, manifests as an important early feature of the disease.