Erythrocytic Anomalies in Hereditary Vitreo-retinal Degeneration (degeneratio Hyaloideoretinalis).

Two hereditary syndromes characterized by the association of retinal changes and erythrocytic anomalies have been described: (1) Retinopathy complicating haemoglobin anomalies, thalassaemia (Rudd, Evans, and Peeney, 1953), or sickle-cell anaemia (Lieb, Geeraets, and Guerry, 1959); (2) Atypical retinitis pigmentosa with thorny erythrocytes (acanthocytosis: Bassen and Kornzweig, 1950; Kornzweig and Bassen, 1957; Jampel and Falls, 1958; Mier, Schwartz, and Boshes, 1960; Druez, Lamy, Frezal, Polonovski, and Rey, 1961). The symptoms of the former, and in particular the appearance of thalassaemic retinopathy (preretinal veils with arcaded edges temporally and chorioretinal atrophy), have some features in common with those of hereditary vitreo-retinal degeneration (Wagner, 1938; B6hringer, Dieterle, and Landolt, 1960). The similarity between the tapeto-retinal degeneration associated with acanthocytosis and the retinal symptoms of vitreo-retinal degeneration is even more remarkable, and some of the biochemical findings of both anomalies suggest their possible role in the pathogenesis of vitreoretinal degeneration.