Achromatopsia

Complete or near complete absence of color vision

Overview

Achromatopsia is a rare inherited retinal condition in which the cone photoreceptors, responsible for color and daylight vision, do not function. People with complete achromatopsia see the world in shades of grey, have reduced visual acuity, marked sensitivity to bright light, and often nystagmus from infancy, while rod based night vision is relatively preserved. It is usually autosomal recessive, with CNGA3 and CNGB3 being commonly involved genes. It is notably frequent on the Pacific atoll of Pingelap, described in the book The Island of the Colorblind by Oliver Sacks.