Autosomal recessive incomplete achromatopsia with protan luminosity function.
A unique form of dichromatic color vision is described in a family with incomplete achromatopsia. In 1966, incomplete achromatopsia was diagnosed in 4 of 14 children of a consanguineous marriage. The 4 affected had best visual acuities of 6/60 or 6/180, pendular nystagmus, and aversion to bright lights. The ERG showed minimal photopic responses. No abnormality of rod function was present. There was a severe color vision defect. In 1976, one of the patients returned for further color testing. Color tests included measurement of the luminous efficiency function using heterochromatic flicker photometry and colorimetric evaluation. The luminous efficiency function resembled that of the protanope. From the colorimetric measurements, we conclude that the patient has a unique form of dichromatic color vision mediated by two visual photopigments: the normal MWS cone photopigment and a photopigment with the spectral characteristics of rhodopsin.
D000293:Adolescent; D002648:Child; D003119:Color Perception Tests; D003117:Color Vision Defects / Q000235:genetics*; D003241:Consanguinity; D003623:Dark Adaptation; D004585:Electrooculography; D004596:Electroretinography; D005808:Genes, Recessive; D006801:Humans; D011581:Psychological Tests