[Hereditary drusen in Bruch's membrane].

The left eye of a 71-year-old patient who had suffered from choroiditis guttata was removed immediately after death by enucleation. Histopathological studies revealed numerous nodular (hard) drusen, a wide variety of senile alterations of the pigment epithelium and Bruch's membrane, and the presence of multiple corpora arenacea in the subarachnoid space of the optic nerve. A new hypothesis concerning the development of hereditary drusen is advanced, postulating a disturbance of the lysosomal enzyme/inhibitor balance.

Studies on hereditary retinal degeneration. The rd gene in the mouse.

Stearic, oleic, linoleic, arachidonic, and docosahexaenoic acids can be detected regularly in the eyes and retinae of mice. During the period of maturation of the outer segments of the rod, the amount of each fatty acid increases, the most striking feature of which is the accumulation of docosahexaenoic acid in the retina, which might reflect the growth of rod outer segments. In rd/rd mice, fatty acid synthesis is reduced and the change characteristic of docosahexaenoic acid is absent.

Decreased thiosulfate sulfur transferase (rhodanese) in Leber's hereditary optic atrophy.

In mammals the major portion of cyanide is converted to thiocyanate by the liver enzyme thiosulfate sulfur transferase (TST) (rhodanese). We have found a much reduced activity of this enzyme in liver biopsies from two affected males of a family with Leber's hereditary optic atrophy and in two isolated cases of the same disease, (compared to liver biopsies from controls or liver samples obtained at autopsy). In one of the patients we studied the effect of a 3-day thiosulfate infusion.