POAG-PLL - Primary Open Angle Glaucoma and Primary Lens Luxation/Shar Pei

Race liée: 

Painful and blinding disease

Description: 
Reduced drainage of fluid from the eye causing a build-up of pressure, enlargement of the eyes and lens luxation
Symptomes: 
Ocular pain, blinking, tearing, redness, blindness
Age d'aparition: 
Between 4 and 6 years old
Fréquence: 
50% carriers
Gène impliqué: 
ADAMTS17
Mutation testée: 
c.3070-3075delCGTGGT
Transmission: 
Autosomal Recessive
Brevet: 
-
Remarques: 
-