Test Detail
BBS4-PRA - Puli
Ocular · Dog
A form of progressive retinal atrophy of the Puli caused by a mutation in the BBS4 gene, linked to Bardet-Biedl syndrome. It produces progressive degeneration of photoreceptors and gradual vision loss. It is incurable and progresses to blindness without causing pain.
Incidence
Specific to the Puli. Limited data on carrier frequencies; the breed is small and the disease is considered rare.
Breeder management
- Test breeding dogs before mating
- Do not cross two carriers
- A carrier may be crossed with a clear individual; test the offspring intended for breeding
- Preserve genetic diversity given the small breed population
- Do not cross two carriers
- A carrier may be crossed with a clear individual; test the offspring intended for breeding
- Preserve genetic diversity given the small breed population
Specialist notes
As in other BBS-PRAs, it is advisable to rule out additional features of the syndrome (polydactyly, renal anomalies). Differential diagnosis with other PRAs. There is no curative treatment.
References
1. Chew T et al. 2017, A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) 7(7):2327-2335. PMID: 28533336. OMIA:002045-9615.