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Die juvenile amaurotische Idiotie: Klinische und erblichkeitsmedizinische Untersuchungen.

JAMA. 1933;100(16):1281. doi:10.1001/jama.1933.02740160065035.
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The term amaurotic family idiocy usually recalls to one's mind the well known morbid entity described by Tay in 1881 and by Sachs in 1887 and known as the infantile form of this disease. The most remarkable features are the exclusive and early occurrence (at about 6 to 8 months) in Jewish infants of blindness, of dementia and of a cherry-red spot in the region of the macula. Amaurotic family idiocy occurs also in non-Jewish children but much later in life, at the age of 4 years or after, lasts much longer, and, instead of a cherry-red spot, it exhibits other retinal changes, mainly retinitis pigmentosa. While the infantile form of Tay-Sachs disease is easy to diagnose, the juvenile form always remains undiagnosed and is considered a very rare disease. Sjögren showed that this is not the case. By studies of fifty cases of blind children in various stages of


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