Patterned anomalies of the retinal pigment epithelium: dystrophy or syndrome?

Under the heading of patterned dystrophies of the central pigment epithelium have been included, in some recent publications, the reticular and macroreticular dystrophies described respectively by Sjögren and Mesker et al. (both probably autosomal recessive hereditary conditions) as well as Deutman's butterfly-shaped dystrophy and fundus pulverulentus (both with autosomal dominant heredity), occurring in a few families. We have recently seen 6 patients with patterned anomalies of the central retinal pigment epithelium. The cause of this pigment anomaly was different in each case: Stargardt's macular degeneration associated with fundus flavimaculatus, drusen of Bruch's membrane, choroidal folds, adult (non-hereditary) vitelliform degeneration, bull's eye degeneration of the macula in chronic rheumatoid arthritis, and detachment of the pigment epithelium. In only one case, that of Stargardt's degeneration, was the condition hereditary (autosomal recessive) so that the term dystrophy (= hereditary degeneration) would be justified; all the other cases were non-hereditary conditions. The central retinal pigment epithelium can only react in a limited number of ways to pathological stimuli: one way is the patterned distribution of pigment. This argues against the concept of patterned dystrophy of the retinal pigment epithelium, especially as under this heading conditions with different hereditary characteristics are lumped together.