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
COPENHAVER RM, GOODMAN G. The Electroretinogram in Infantile, Late Infantile, and Juvenile Amaurotic Family Idiocy. AMA Arch Ophthalmol. 1960;63(3):559–566. doi:10.1001/archopht.1960.00950020561014
Customize your JAMA Network experience by selecting one or more topics from the list below.