Progressive Retinal Atrophy (PRA), JPH2-related(PRA-JPH2)
Also known as: JPH2-PRA · Progressive Retinal Atrophy JPH2-related · JPH2-associated progressive retinal atrophy · Progressive Netzhautatrophie JPH2 · Junctophilin 2 progressive retinal atrophy · …
Overview
What it is
This is an inherited eye disease that causes the progressive degeneration of the retina, which is the light-sensitive layer of tissue at the back of the eye. Specifically linked to a mutation in the JPH2 gene, it causes the photoreceptor cells to gradually break down and die. This genetic variant is inherited in an autosomal recessive manner and is primarily identified in the Shih Tzu breed.
How it presents
Owners typically first notice night blindness or difficulty navigating in dim light during early to middle adulthood. As the disease progresses, daytime vision also deteriorates, eventually leading to complete blindness.
Treatment
There is no cure for this condition, but it is painless and dogs usually adapt well to gradual vision loss. Lifetime veterinary costs for diagnosis, monitoring, and supportive care typically range from 500 to 2000 EUR.
How it's tested
ECVO Augenuntersuchung (DOK)(ECVO-DOK)
Primary testEye examAugenuntersuchung durch ECVO-zertifizierten Augentierarzt (Dortmunder Kreis). Erkennt PRA, Katarakt, Entropium, CEA, MPP, RD u.a.
Issuing body: ECVO
Result scheme: Eye-ECVO
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
DNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Progressive Retinal Atrophy (PRA), JPH2-related?
This is an inherited eye disease that causes the progressive degeneration of the retina, which is the light-sensitive layer of tissue at the back of the eye. Specifically linked to a mutation in the JPH2 gene, it causes the photoreceptor cells to gradually break down and die. This genetic variant is inherited in an autosomal recessive manner and is primarily identified in the Shih Tzu breed.
How is Progressive Retinal Atrophy (PRA), JPH2-related tested?
Tests currently in our database: ECVO Augenuntersuchung (DOK), Labogen Komplettpaket (rassespezifisch), Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.