PRA-rpgr - Progressive Retinal Atrophy/Générique

Progressive loss of vision

Description: 
Rod and cone dystrophy
Symptomes: 
Progressive loss of vision (at night and then in daylight) culminating in blindness
Age d'aparition: 
Between 1 and 4 years old
Fréquence: 
Not available
Gène impliqué: 
RPGR
Mutation testée: 
c.1028_1032del
Transmission: 
X-linked
Brevet: 
_
Remarques: 
_