Since the initial descriptions by Tay1 (1881) and Sachs2 (1887), an estimated 500 separate cases of infantile amaurotic family idiocy (IAFI) have been cited in published medical reports. These formal descriptions, reflecting the individual interests of the authors, have dwelled upon varying facets of the disease, with the greatest emphasis placed upon pathologic observations. In 1933, Slome3 prepared the first comprehensive genetic analysis of the disorder, based upon a survey of the 135 adequately described cases available in the medical literature to that date. A comparable study by Ktenidès4 incorporated the case reports published between the years 1933 and 1949, and included an additional 99 instances of the disease. Further assessment of the genetic background of IAFI became available when Kozinn and associates5 examined the death certificates in New York City for the years 1944 to 1954 and were able to personally interview the immediate families of 43 established cases
ARONSON SM, ARONSON BE, VOLK BW. A Genetic Profile of Infantile Amaurotic Family Idiocy: Statistical Evaluation of One Hundred Thirty-One Patients. AMA Am J Dis Child. 1959;98(1):50–65. doi:10.1001/archpedi.1959.02070020052007
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