PRA-rcd4 - Progressive Retinal Atrophy/English 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: 
7% carriers in French population
Gène impliqué: 
C2orf71
Mutation testée: 
c.3149_3150insC
Transmission: 
Autosomal Recessive
Remarques: 
This variant does not account for all cases in the English Setter breed, indicating the presence of at least one additional mutation for PRA in this breed that remains to be identified.