Multi-disease genetic panel for the Lagotto Romagnolo grouping five molecular tests: progressive retinal atrophy (prcd-PRA), juvenile epilepsy (JE), Lagotto lysosomal storage disease (LSD), furnishing (curly coat) and hyperuricosuria (HUU/SLC). Each condition or marker has its own molecular basis and inheritance. The panel is complementary to the ocular examination and neurological follow-up in breeding selection.

Applicable breed: Lagotto Romagnolo. The prcd-PRA, SLC2A9 and RSPO2 variants are present in breeding lines; JE and LSD have a lower case count. Reliable carrier frequencies in the breeding population are not systematically published (limited data).

- Reduced night vision and progressive retinal atrophy (prcd-PRA)
- Progressive blindness with altered fundus
- Progressive ataxia, neurological signs and deterioration from a young age (NAD)
- Epileptic seizures with juvenile onset (JE)
- Progressive neurological deterioration and storage signs (LSD)
- Curly coat/eyebrows and beard (furnishing) — not a disease
- Urolithiasis due to urate stones with urinary obstruction (HUU/SLC)

Canine prcd-PRA was associated with the PRCD gene and its molecular test became widespread in multiple breeds. Lagotto juvenile epilepsy (remitting focal seizures) is associated with truncation of LGI2 (Seppälä 2011). Lagotto LSD is associated with ATG4D (Kyöstilä 2015), with aberrant autophagy and vacuolar neurodegenerative disease. Furnishing (curly coat) was associated with a variant of RSPO2. Canine hyperuricosuria was associated with a variant of SLC2A9 in the Dalmatian and extended to related breeds.

- Genotype breeding animals before mating; the panel covers five conditions/markers in a single sample
- For prcd-PRA, JE, LSD and HUU/SLC (recessive): do not mate two carriers — 25% risk of affected homozygotes; carrier × clear is safe for offspring intended for breeding if tested
- For furnishing (dominant): heterozygotes transmit the variant to 50% of the offspring; it guides the coat type of the litter
- While the JE and LSD genes are being confirmed, avoid mating affected animals and keep a genealogical record of lines with cases
- After a confirmed clinical case, do not repeat the parental mating and inform the buyer of the status

prcd-PRA is confirmed by ocular examination and molecular test; annual examination (ECVO/CERF) complementary. JE must be differentiated from other genetic and acquired epilepsies (infectious, toxic, metabolic). LSD requires enzymatic and molecular study; the differential diagnosis includes other storage diseases. Urate urolithiasis must be differentiated from cystine and infectious urolithiasis — stone analysis is key.

1. Zangerl B et al. 2006, PRCD y prcd-PRA canina (PMID 16938425)
3. Seppälä EH et al. 2011, truncación de LGI2 y epilepsia focal remitente (PMID 21829378)
4. Kyöstilä MA et al. 2015, ATG4D y enfermedad lisosomal vacuolar neurodegenerativa (PMID 25875846)
5. Bannasch D et al. 2008, SLC2A9 e hiperuricosuria (PMID 18989453)