RENAL DISEASE, INNER EAR DEAFNESS, AND OCULAR CHANGES

Abstract

A CLINICAL syndrome characterized by progressive deafness, ophthalmological changes, and laboratory evidence of chronic renal disease has been observed and studied in four brothers. The results of clinical and laboratory investigations conducted while these patients were hospitalized yielded an almost identical picture in all four siblings. At the time of investigation, their ages were 18 (J.), 17 (I.), 16 (N.), and 14 (M.). In all instances, deafness was first noted at age 9 to 10 and was progressive. The youngest brother (M.) in addition had had intermittent back pain since the age of 12 (once with hematuria?) and amebic colitis at the age of 13. Physical examination in all instances revealed normal physical development, asthenic build, long extremities and fingers, and high palate. Their weights ranged from 55 kg. in the oldest to 40 kg. in the youngest. An apical systolic murmur was audible in all except N. A positive