Autosomal Recessive Incomplete Achromatopsia with Protan Luminosity Function

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Abstract
A unique form of dichromatic color vision was 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 children had best visual acuities of 6/60 or 6/180, pendular nystagmus and aversion to bright lights. The ERG [electroretinogram] showed minimal photopic responses. No abnormality of rod function was present. There was a severe color vision defect. In 1976, 1 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, the patient evidently has a unique form of dichromatic color vision mediated by 2 visual photopigments: the normal MWS [middle wavelength sensitive] cone photopigment and a photopigment with the special characteristics of rhodopsin.

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