PRA-b - Progressive Retinal Atrophy/Bengal

Race liée: 

Progressive loss of vision

Description: 
Progressive rod-cone degeneration
Symptomes: 
Progressive loss of vision (at night and then in daylight) culminating in blindness
Age d'aparition: 
Between 2 and 5 months old
Fréquence: 
18% carriers in European population
Gène impliqué: 
KIF3B
Mutation testée: 
c.1000G>A
Transmission: 
Autosomal Recessive
Brevet: 
-
Remarques: 
-