Test Detail

PRA-AIPL1 is a progressive and irreversible degeneration of photoreceptors described in the Persian cat and related breeds, caused by a truncating variant in the AIPL1 gene. OMIA also calls it feline Leber congenital amaurosis (LCA). The published information and frequencies are limited to Persian and related breeds; it must not be extrapolated to other breeds without data.

Allele frequency of the AIPL1 variant in Persian and related breeds: 1.15 % (Lyons et al. 2016, PMID 27030474; more than 1,700 cats from 40 breeds/populations). There are no reliable frequencies for other breeds: limited data.

- PRA-AIPL1 is autosomal recessive: only homozygotes are at risk; heterozygotes are healthy carriers.\n- Do not mate two carriers with each other; a carrier may be mated to a clear animal.\n- Limit the test to Persian and related breeds; do not extrapolate the result to other PRAs (rdAc, rdy).\n- Complement with ophthalmological examination (ERG and ophthalmoscopy) of the breeding animals, because most feline PRAs are not explained by this variant.\n- Record the result in the pedigree and confirm the interpretation with the laboratory's guidance.

Differential diagnosis with rdAc-PRA, taurine-deficiency retinopathy, uveitis and hypertensive retinopathy. ERG and ophthalmoscopy remain key when the genetic result does not explain the clinical picture. A risk result must be interpreted together with the age of onset and the examination, since PRAs differ greatly in age of onset.

1. Lyons LA et al. 2016, secuenciación de genoma completo en gatos: nuevos modelos de ceguera en AIPL1 (PMID 27030474)
2. Narfström K, PRA felina: caracterización clínica y electroretinográfica (revisión veterinaria)
3. OMIA:001222 PRA-AIPL1 felina (amaurosis congénita de Leber)