Home / Veterinary / Diseases and genes
Progressive retinal atrophy rcd2 (Collie)
Ocular · Dog
A form of progressive retinal atrophy (rcd2) in the Collie caused by an insertion mutation in the RD3 gene. It causes early degeneration of cones and rods with progressive vision loss from an early age. It is incurable and non-painful, and progresses to blindness.
Incidence
rcd2 documented in the Collie. There are no reliable published figures for carrier frequency in the breed.
Clinical signs
- Early and progressive night blindness\n- Photoreceptor degeneration (cones and rods)\n- Retinal atrophy on fundus examination\n- Progressive decrease in daytime vision progressing to blindness\n- No ocular pain
History
Rod-cone dysplasia type 2 (rcd2) was described as a clinical entity in the Collie. Kukekova et al. (2009) identified the insertion mutation in the canine homologue of the RD3 gene (formerly C1ORF36), establishing rcd2 as the orthologue of human and murine rd3.
Breeder management
- Test breeding animals before mating\n- Do not mate two carriers\n- Carrier × clear produces no affected animals; test offspring intended for breeding\n- Affected animals should not be bred\n- Preserve the genetic diversity of the breed
Specialist notes
Differential diagnosis from other PRAs and acquired retinopathies. Early onset. There is no curative treatment; management of adaptation to vision loss.
References
Kukekova AV et al. 2009. Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3. Mamm Genome. PMID: 19130129
Price: 52,60 € · Turnaround time: 20 days