Autosomal dominantly inherited macular dystrophy with preferential short-wavelength sensitive cone involvement

We found an apparently inherited tritan-like color vision defect in five members of a family, spanning three generations. The defect was associated with mild macular pigmentary changes, poor foveolar reflexes, or slightly reduced visual acuity in four of the affected individuals. The inheritance pattern appeared to be autosomal dominant. Results of various color vision tests indicated preferential involvement of the short-wavelength sensitive cone system, with relative preservation of the middle- and long-wavelength sensitive cone systems. Both anomaloscope testing with larger (8-degree) fields and short-wavelength sensitive electroretinography indicated some short-wavelength sensitive cone system involvement beyond the central macula in the three affected individuals on whom testing was performed. The condition appeared to be a familial macular dystrophy with preferential short-wavelength sensitive cone involvement. The abnormal macular findings and mild reduction in visual acuity distinguish this condition from congenital tritanopia; the normal optic disks distinguish it from autosomal dominant optic atrophy.