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Keeping abreast of recent developments in the field of genetic and metabolic disease has become increasingly important, while becoming, at the same time, increasingly difficult for most of us. In the past decade or so, the simple descriptive approach to clinical syndromes and the photomicroscopic interpretation of tissues has given way to biochemical identification of the enzymatic faults and to ultrastructural localization of the underlying processes. Numbers are replacing eponyms according to either a logical sequence of substrate degradation products or a grouping of related storage substances. Disruptive as this may be for those reared in classical genetics, the future student of medicine will have an outline by which he can bring some order to what has been a confusing, however picturesque, classification of clinical entities.
A dominant position of ophthalmology in applied genetics has been evident in the past by such texts as Waardenburg's Genetics and Ophthalmology. The accessibility
Cogan DG. Genetic and Metabolic Eye Disease. Arch Ophthalmol. 1974;92(5):452. doi:10.1001/archopht.1974.01010010464021