Oculorenocerebellar Syndrome

Clinical Features

In a Mennonite sibship of 11 children, with consanguineous parents, Hunter et al. (1982) found 3 boys and 2 girls with a syndrome of profound mental retardation, choreoathetosis and worsening spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and a glomerulopathy resulting in death late in the first or early in the second decade. Autopsy in one of the boys showed absence of the cerebellar granular layer. Most renal glomeruli were completely sclerosed. No report of similar cases was found.