CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

ABSTRACT: Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally. Brain areas involved in vision were morphologically normal. When targeting cones by immunofluorescence, a decrease in cone number and an accumulation of beta subunits of cone cyclic-nucleotide gated channel (CNGB3) in the outer plexiform layer of affected animals was obvious. Achromatopsia is a monog

SUBMITTER: Hafliger IM 

PROVIDER: S-EPMC8620519 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature