Ocular Defects Associated with Familial Renal Disease and Deafness

Introduction Hereditary renal disease associated with nerve deafness has been recognized for many years. Recently it has become apparent that patients with this syndrome may have ocular defects; however, no mention of this is made in the ophthalmic literature. Review of Literature Guthrie 8 first called attention to familial hematuria in 1902. Hurst 10 (1923) reported further on the same family and was the first to note the coexisting nerve deafness. A heredofamilial form of renal disease and deafness associated with ocular defects was first reported by Sohar 1 (1954). Reyersbach and Butler 3,5 and Goldbloom et. al. 2 have also reported cases. Goldman and Haberfelde 6 in a comprehensive review of the literature found reports of 12 families in which 3 or more generations had this syndrome. They added one family in which 6 males had died of uremia. Five others had clinical glomerulonephritis and another 5 had intermittent