The X-Linked Recessive Inheritance of Atypical Monochromatism

Introduction The inheritance of congenital monochromatism has been variously attributed to an autosomal, incomplete sex-linked¹and X-linked recessive²modes of transmission. This confusion has arisen at least in part from the fact, as recent psychophysical measurements³⁻⁶make abundantly clear, that there are several different varieties of monochromatism. Although these varieties can be differentiated from each other only by rather elaborate psychophysical measurements (ones rarely used in genetic studies), there is no reason to expect that they will all have the same means of genetic transmission. In the present paper some of the psychophysical and other ophthalmological findings in a pedigree with an X-linked recessive mode of inheritance (Fig 1) are presented. In the subsequent⁷paper the results of further tests will be described which suggest that this family has a rare atypical form of congenital monochromatism. Report of Cases Monochromats Case 1 (VI-16; Fig 1).