Progressive Cone-Rod Dystrophy (PCRD)

DProgressive retinal atrophy (PRA) causes blindness and is inherited in over 100 breeds. Cone-rod dystrophy (CRD), a type of PRA, is an inherited photoreceptor disease, which results in day blindness.

Latest Research Update: Through comparing 13 different sets of standard wire-haired dachshund siblings (one sibling with CRD and one without) we were able to identify a new gene, nephroretinin (NPHP4), that is involved in early-onset CRD. NPHP4 was found to be shortened and missing the binding site for an important retina protein (RPGRIP1) in all the affected dogs. This is the first eye disease mutation found in NPHP4 that doesn’t also cause kidney disease (humans with NPHP4 mutations have both). Further studies will allow us to find the molecular mechanism of this retinopathy and develop potential therapies. Tests are now being offered for progressive rod cone dystrophy (contact: Frode Lingaas)

Wiik et al. (2008) A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. Genome Res. doi:10.1101/gr.074302.107

Breeds needed for our study: Complete

Collaborators: Frode Lingaas (Norwegian School of Veterinary Science)