The eye and the chromosome

The first linkage of disease traits on the human X-chromosome was reported in 1937, and the first assignment of a human disease to an autosome was made 26 years later in 1963. Now, after only 19 years, there are at least 338 assignments to loci on the human chromosome map. This amazing expansion of information extends to eye diseases. In this review, basic mechanisms of mutation are discussed, and the basic methodologies used for gene assignments are explained. All of the eye-related, definite, autosomal assignments are presented. The diseases that have regional assignments on the X-chromosome are discussed, and the remaining X-linked eye diseases are listed in table form.