Typical ophthalmoscopic picture of "cherry-red spot" in an adult with the myoclonic syndrome.

THE typical ophthalmoscopic picture of a "cherry-red spot" is only one of the pathognomonic elements of infantile amaurotic idiocy, or Tay-Sachs' lipoidotic ganglioside disease (Danis, Begaux, and Decock, 1957). A similar picture was also observed in Niemann-Pick disease (sphingomyelin lipoidosis disease) in about 60 per cent. of cases (Videbaek, 1949) and even in two cases of Gaucher's cerebrosidic lipoidosis disease (Eyb, 1952; Tyler, 1957). The sphingolipoidosis now mentioned (van Bogaert, 1962) is typical of infancy, although even in adults rare cases of Niemann-Pick and Gaucher's diseases have been reported (Rutishauer, 1942; Dusendschon, 1946; Pfandler, 1946; Tyler, 1957). As far as so-called "amaurotic idiocy" is concerned it is well known that other forms are present as well as the infantile type, which chronologically may be classified as follows: (1) Congenital (Normann and Wood). (2) Infantile (Jansky-Bielschowsky). (3) Juvenile (Vogt-Spielmeyer; Batten-Mayou). (4) Adult (Kufs). (5) Pre-senile (van Bogaert and Borremans). The typical cherry-red spot, however, is present only in the Tay-Sachs' infantile type, while in the other forms the most varied fundus pictures may be observed, from atrophy of the optic nerve alone to macular changes and tapeto-retinal degeneration, with or without atrophy. In the adult and pre-senile types fundus changes are quite exceptional. The ophthalmoscopic finding of a typical cherry-red spot in an adult is by itself very rare indeed, but the clinical report becomes even more interesting if a particular neurological picture is found at the same time. Such a case is reported here.