PRA-rcd4 - Progressive Retinal Atrophy/Générique

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: 
Not available
Gène impliqué: 
C2orf71
Mutation testée: 
c.3149_3150insC
Transmission: 
Autosomal Recessive
Brevet: 
-