Amaurotic Family Idiocy.—Amaurotic family idiocy is a disease of the central (cerebral) nervous system in which the principal symptoms consist in gradually increasing physical weakness, arrested mental development and gradual loss of sight. It is found almost exclusively in Jewish children 2 or 3 years of age, although a few cases have been reported in children of other nationalities.
Ophthalmoscopic examination shows a whitening optic nerve and a deep red round spot in the fovea, surrounded by a whitish patch of retinal degeneration. The disease is fatal in the course of a few months.
The clinical similarity of amaurotic family idiocy to "cerebral family degeneration" has led to the belief that they are identical affections, and that the latter title is given to the affection in its later stages. Batten and Mayou1 say:
There is a close relationship between these cases (family cerebral degeneration) and the cases of
HANSELL HF. REVIEW OF OPHTHALMOLOGY. Am J Dis Child. 1917;13(6):516-522. doi:10.1001/archpedi.1917.01910060057007