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Achromatopsia-3, CNGB3-related

Häfliger et al. (2021) "characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. ... Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity."

OMIA ID: 1365Inheritance: Häfliger et al. (2021) "available pedigree records of all 12 cases were analy...Characterised: YesYear: 2021