Retinal pigment epithelial dysplasia causing localized multifocal retinal detachments
Symptoms In the mild form, no vision disorders are reported despite the abnormal retina. In the severe form, lesions can lead to blindness.
Gene involved BEST1
Mutation tested c.73C>T (CMR1)
Transmission mode : Autosomal recessive
Publication : Guziewicz et al. (2007). Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Gene involved BEST1
Mutation tested c.482G>A (CMR2)
Transmission mode : Autosomal recessive
Publication : Guziewicz et al. (2007). Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Gene involved BEST1
Mutation tested c.1388delC (CMR3)
Transmission mode : Autosomal recessive
Publication : Zangerl et al. (2010). Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).