AMAUROTIC IDIOCY

Abstract

Amaurotic familial idiocy\p=m-\a clinical entity of which about one hundred cases are on record, is of great interest to the general medical profession because its symptoms are relatively so definite but rarely so correlated by the observer as to be recognized as the disease we are about to discuss.The forerunners of the discovery of this disease were the ophthal- mologists, chief of whom was Warren Tay,1 who, in 1881, published an article under the caption "Symmetrical Changes in the Region of the Yellow Spot in Each Eye of an Infant."Tay found that in his patient, a child of 12 months, in the region of the macula, there was a large whitish patch, in the center of which was a brownish red spot similar to that caused by embolism of the central artery of the retina.He considered this change probably a local congenital disturbance.Later, in 1884, he reported2 three more cases with the same condition in the same family, all of whom died at 2 years of age.Three years later B. Sachs3 made his noteworthy observations on the character of this disease in a paper on "Arrested Cerebral Develop¬ ment."In 1892 he reported a second case in the same family.Both children died at 2 years, had the same clinical symptoms and signs, and the brain of each showed the same pathologic changes.Sachs could give no explanation of the causes of this disease but said they were probably fetal-agenetic.Carter4 first recognized that the cases thus far corresponding to Sachs' were of Hebraic extraction and that "while to date, the major¬ ity of the cases reported belong to that race, by no means do all."The term "amaurotic family idiocy" was proposed by Sachs in 1896, when the familial character of this disease was almost uni¬ formly found.To this time 19 cases were described as having occurred in ten families.Combining the symptoms of all the cases