CNB - Congenital Stationary Night Blindness/Briard

Loss of night vision

Description: 
Early retinal degeneration
Symptomes: 
Night blindness, vision in daylight can be normal or decreased
Age d'aparition: 
From birth
Fréquence: 
5%
Gène impliqué: 
RPE65
Mutation testée: 
c.460_463del
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_