Color Vision in a Family with Autosomal Dominant Cone Dystrophy

Abstract

In a family with autosomal dominant cone dystrophy (43 family members, 17 members affected, 12 patients examined) the acquired color vision defect progresses in dependence on age and stage of the disease, following a recognizable pattern. The color vision deficiency progresses between the 2nd and the 5th decade from normal color vision — through type III B-Y defect — subsequently through type I R-G defect — to an acquired achromatopsia. The different stages of the acquired color vision deficiency within one family are demonstrated by PIC-tests (SPP II, AO H-R-R, TMC, Velhagen), 100-hue, Panel D15 Standard, Desaturated Panel D15, NCT, Nagel anomaloscope, quantitative determination of the 3 CVMs and spectral hue discrimination curves. They show fluent transitions, since cone dystrophy affects all 3 cone types and gives rise to an early rod intrusion upon color vision.