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Progressive retinal atrophy (rdAc-PRA)

Ocular · Cat

rdAc progressive retinal atrophy is an inherited ocular disease of the cat that causes gradual and irreversible degeneration of the photoreceptors, first the rods and then the cones. It affects the visual system and progresses to complete blindness. Because the loss is slow, many cats adapt for years, but they fail in low light and progressively lose their independence. It is the form of feline PRA present in the most breeds and one of the most frequent in genetic panels.

Inheritance pattern	Autosomal recessive
Gene / Mutation	CEP290: splice variant IVS50+9T>G (c.7584+9T>G; g.110285757A>C, F.catus_Fca126_mat1.0) in intron 50, which creates a canonical splice donor with a 4-bp insertion and a frameshift in the transcript (Menotti-Raymond et al. 2007; OMIA:001244-9685). The attribution to CRYBA1 is erroneous.
Penetrance	In homozygosity the disease is expressed with high penetrance, although the age of onset (typically around 2-5 years) and the rate of progression vary between individuals. Heterozygotes remain asymptomatic.
Code	mqct
Turnaround time	10 days
Price	52,60 €

Incidence

Breed of origin: Abyssinian, with the closely related Somali. The variant has been detected in other breeds included in the panels (for example Bengal, Siamese, Oriental, Tonkinese, Singapura, Peterbald), generally with low but detectable carrier frequencies. The figures vary greatly between breeds, countries and years, and in breeds outside the Abyssinian group the published data are limited; a specific frequency should not be assumed without a population study.

Breeder management

- Perform the DNA test before the first mating: it distinguishes clear (N/N), carriers (N/rdAc) and affected (rdAc/rdAc).\n- A carrier can be mated to a clear animal without risk of affected cats; never to another carrier.\n- Keep at most one carrier of value per generation, always with a clear mate, and test the offspring intended for breeding.\n- Record the results in the pedigree to prevent the silent spread of the allele.

Specialist notes

Differential diagnosis with taurine-deficiency retinopathy (bilateral lesions in the central area of the retina, reversible in early stages), other feline PRAs (rdy, pd), inflammatory chorioretinopathies and hypertensive retinopathy. Ophthalmoscopy and ERG help confirm and stage it. As there is no treatment, management is supportive: a stable environment, indoor life and annual ophthalmological follow-up.

References

1. Menotti-Raymond M et al. 2007. Mutation in CEP290 discovered for cat model of human retinal degeneration. Journal of Heredity. PMID: 17507457
2. Lyons LA. 2015. DNA mutations of the cat: the good, the bad and the ugly. Journal of Feline Medicine and Surgery. PMID: 25701860
3. OMIA:001244-9685. Retinal degeneration II (Felis catus). Online Mendelian Inheritance in Animals.

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