Abstract
Since the initial descriptions by Tay<sup>1</sup>(1881) and Sachs<sup>2</sup>(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, Slome<sup>3</sup>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 Ktenidès<sup>4</sup>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 associates<sup>5</sup>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
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