Other names: CMR3
Affected Genes: Best1
Inheritance: Autosomal recessive
Mutation: CanFam3.1 18 g.54470590del c.1388del (1bp deletion (del C))
OMIA link: 001554-9615


Appropriate breeds for testing: Finnish Lapphund, Lapponian Herder, Swedish Lapphund


Symptoms:
Canine multifocal retinopathy is an eye disorder characterized by multiple areas of retinal degeneration.
Signs of the disease develop around 13 weeks of age and include multiple subretinal spots in the fundus. Lesions elevate the retina. New lesions stop appearing after 6 to 12 months of age. In general, vision is not affected.


References:
Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent besttrophinopathy model (cmr3). MolVis. 2010 Dec 16; 16:2791-804