PRA-rcd4 - Progressive Retinal Atrophy/Irish Setter

Race liée: 

Progressive loss of vision

Description: 
Rod and cone dysplasia type 4
Symptomes: 
Progressive loss of vision (at night and then in daylight) culminating in blindness
Age d'aparition: 
Average age of 10 years, cases observed from 5 to 12 years old
Fréquence: 
World population: 49% carriers ; French population: 27% carriers
Gène impliqué: 
C2orf71
Mutation testée: 
c.3149_3150insC
Transmission: 
Autosomal Recessive
Remarques: 
This mutation accounts for 70% of PRA cases in the Irish Setter breed. Another DNA test (PRA-rcd1) is available to detect another form of PRA in this breed.