Test Detail

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.
Inheritance patternAutosomal recessive (OMIA:001260-9615)
Gene / MutationRD3 (canine homologue; formerly C1ORF36): causal insertion mutation described by Kukekova et al. 2009 (rcd2). OMIA:001260-9615
PenetranceMutated homozygotes develop progressive retinal degeneration; heterozygotes are asymptomatic carriers.
Codenpte
Turnaround time20 days
Price52,60 €

Incidence

rcd2 documented in the Collie. There are no reliable published figures for carrier frequency in the breed.

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

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