Breeds
Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
General
Disease Name
Progressive Retinal Atrophy - CNGB1
Mutation
c.2685delA2687_2688insTAGCTA
Mutation 2
c.2685delA
Test Type
Genetic Disease/Disorder
Details
Progressive, leading to firstly night blindness, and later to blindness during the day
Details 2
Progressive, non-inflammatory degeneration or dysplasia of rods and cones or just of rods, leading to firstly night blindness, and later to blindness during the day
Published
Winkler, P.A., Ekenstedt, K.J., Occelli, L.M., Frattaroli, A.V., Bartoe, J.T., Venta, P.J., Petersen-Jones, S.M. : A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa. PLoS One 8:e72229, 2013. Pubmed reference: 23977260. DOI: 10.1371/journal.pone.0072229.
