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March 1960

The Electroretinogram in Infantile, Late Infantile, and Juvenile Amaurotic Family Idiocy

Author Affiliations

New York
Special Trainee in Ophthalmology of the National Institute of Neurological Diseases and Blindness (BT 323C1). Present address: 373 E. Main St., Bay Shore, N.Y. (Dr. Goodman).
From the Ophthalmology Branch, National Institute of Neurological Diseases and Blindness, National Institutes of Health, Public Health Service, U.S. Department of Health, Education, and Welfare, Bethesda, Md.

AMA Arch Ophthalmol. 1960;63(3):559-566. doi:10.1001/archopht.1960.00950020561014

This investigation deals with the results of electroretinography in the different forms of amaurotic family idiocy. The clinical significance of the electroretinographic findings and their correlation with the histologic abnormalities found in these disorders will be discussed.

Infantile amaurotic family idiocy (Tay-Sachs disease) occurs predominantly in Jews, with symptoms generally appearing during the third to sixteenth month of life. The first manifestation is usually the infant's inability to follow moving objects with its eyes. A transient flaccidity of the muscles develops, which is replaced by spastic paralysis, and the disease progresses to blindness, dementia, loss of weight, cachexia, convulsions, and sometimes decerebrate rigidity. Death usually occurs during the second year of life. Ophthalmoscopic examination characteristically discloses a grayish retina with a "cherry red spot" in the macula and often pallor of the discs; the retinal vessels become narrowed in the later stages.1,2

Juvenile amaurotic family idiocy (Batten's disease or

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