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Article
March 1961

Ocular Defects Associated with Familial Renal Disease and DeafnessCase Reports and Review of Literature

Author Affiliations

San Francisco
From the Department of Ophthalmology, University of California School of Medicine, San Francisco.

Arch Ophthalmol. 1961;65(3):386-391. doi:10.1001/archopht.1961.01840020388012
Abstract

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  Guthrie8 first called attention to familial hematuria in 1902. Hurst10 (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 Sohar1 (1954). Reyersbach and Butler3,5 and Goldbloom et. al.2 have also reported cases.Goldman and Haberfelde6 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

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