ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND RENAL DYSFUNCTION - AN AUTOSOMAL RECESSIVE SYNDROME

An autosomal recessive syndrome of progressive rod-cone dystrophy, sen sorineural deafness, and renal dysfunction was identified in 14 childr en in 9 Afrikaner families in South Africa. The renal involvement, whi ch is of the Fanconi type, leads to rickets-like skeletal changes and kidney failure. Each of the children was initially misdiagnosed as hav ing retinitis pigmentosa or Usher syndrome, on a basis of minor retina l pigmentation. This condition, which appears to be a hitherto undocum ented entity, warrants differentiation from these disorders. (C) 1993 Wiley-Liss, Inc.