Progressive retinal atrophy (rcd4-PRA)

General description

The Progressive Retinal Atrophy(PRA) leads to a degeneration of the retina and results in blindness. The Rod-cone-dysplasia type 4 (rcd4)-PRA is characterised as a Late Onset PRA (LOPRA). Night blindness is a typical first symptom of the disease.

Breeds

Australian Cattle Dog, Bolonka Zwetna, English Setter, Gordon Setter, Irish Red Setter, Irish Red and White Setter, Kleiner Münsterländer, Miniature Poodle, Old Danish Pointing Dog, Polish Lowland Sheepdog (PON), Poodle, Tatra Shepherd Dog, Tibetan Terrier, Toy Poodle

Order details

Test number	8435
Abbreviation	rcd4-PRA
Sample material	0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration	7-14 working days

Test specifications

Symptom complex	ophthalmic
Inheritance	autosomal recessive
Age of onset	5-12 years
Causality	causally
Gene	PCARE
Mutation	INS
Literature	OMIA:001575-9615

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Detailed description

Progressive retinal atrophy (PRA) is a leading hereditary cause of blindness in pedigree dogs as is its counterpart retinitis pigmentosa (RP) in humans. PRA shows genetic heterogeneity, as does RP, with several distinct forms already recognized and several more remaining to be investigated. One can distinguish between late onset forms of PRA and early onset (whelp-age) dysplastic changes. The clinical and ophthalmologic signs of both forms are similar. Affected dogs suffer from bilateral Mydriasis, the reflection of the Tapetum lucidum is increased and the retinal vascular network appears atrophic. \n\nThe Rod-cone-dysplasia type 4 (rcd4-PRA) -PRA is characterised as a Late Onset PRA (LOPRA). Night blindness is a typical first symptom of the disease, usually seen at the age of 5-12 years. The rcd4-PRA initially has been identified in the breed Gordon Setter, but also has been found in several other breeds so far. \n\nPlease note that besides to the rcd4-PRA, there are other PRA forms known to cause visual impairement in several of the described breeds. \n