During the year a case of amaurotic family idiocy has come under my observation in my service at the Michael Reese Hospital, Chicago. I was enabled to study the case clinically and also was fortunate enough to secure a complete autopsy. Notwithstanding the fact that numerous cases have been reported by American and European writers, the case is thought to be of sufficient interest to warrant publication.
B. Sachs1 was the first to use the designation "amaurotic family idiocy," applied to an interesting family disease occurring in infancy, characterized by an entire lack of mental development, by a progressive weakness of all the muscles of the body, and by rapidly developing blindness, associated with typical changes in the macula lutea. The disease is, according to Sachs, generally fatal, the patients dying, as a rule, in a condition of complete marasmus before the end of the second year of life.
ABT IA. AMAUROTIC FAMILY IDIOCY. JAMA Pediatr. 1911;I(1):59–69. doi:10.1001/archpedi.1911.04100010062006