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Bas-PRA1 - Basenji

Ocular · Dog

A form of progressive retinal atrophy specific to the Basenji, known as Bas-PRA1. It causes progressive degeneration of photoreceptors with gradual vision loss, first at night and then during the day. It is incurable and does not cause pain, but progresses to blindness.
Inheritance patternAutosomal recessive (OMIA:001876-9615)
Gene / MutationSAG c.1216T>C p.(*405Rext*25) (non-stop mutation; Goldstein et al. 2013). OMIA:001876-9615
PenetranceHomozygotes develop the disease; heterozygotes are asymptomatic carriers.
Sample type0,5 - 1 ML Sangre EDTA preferiblemente o 2 Hisopos bucales sin medio de raspado intenso
Codeaczv
Turnaround time10 days
Price52,60 €
BreedsBasenji

Incidence

Specific to the Basenji, with adult onset. There are no systematically published carrier frequencies; the breed is few in number.

Clinical signs

- Initial loss of night vision\n- Tapetal changes on fundus examination\n- Pupillary dilation\n- Progressive decrease in daytime vision\n- Blindness in advanced stages\n- No ocular pain

History

PRA in the Basenji was studied as an entity specific to the breed, with adult onset and autosomal recessive inheritance. Goldstein et al. (2013), using GWAS and homozygosity analysis, localized the signal to CFA25 and identified a non-stop mutation in the SAG gene (c.1216T>C, p.*405Rext*25), establishing the disease as the orthologue of Oguchi disease.

Breeder management

- Test breeding animals before mating\n- Do not mate two carriers\n- A carrier may be mated to a clear animal; test offspring intended for breeding\n- Preserve genetic diversity given the small population of the breed

Specialist notes

Differential diagnosis from other PRAs (including PRCD) and acquired retinopathies. Adult onset. There is no curative treatment. Tibetan Spaniel PRA is NOT caused by SAG (it is FAM161A), so it should not be equated with this.

References

Goldstein O et al. 2013. A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs. Mol Vis. PMID: 24019744; Downs LM et al. 2014. An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers. PLoS One. PMID: 24705771; OMIA:001876-9615

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Price: 52,60 € · Turnaround time: 10 days

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