Papillo-renal syndrome: An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

Abstract

A family is described in which the father and son had chronic renal disease of early onset and bilateral optic nerve dysplasia. A further son, known to have microphthalmos died of renal disease in childhood. Optic nerve changes included coloboma in the father and Handmann's optic nerve anomaly, a condition resembling the morning glory syndrome (M.G.S.), in the son. There was electrodiagnostic and visual field evidence of optic nerve dysfunction even where acuity was relatively unaffected. The son developed central serous retinopathy, a condition frequently encountered in association with optic nerve dysplasias, including M.G.S.