Rod‐cone dystrophy, sensorineural deafness, and renal dysfunction: An autosomal recessive syndrome?

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Abstract
An autosomal recessive syndrome of progressive rod‐cone dystrophy, sensorineural deafness, and renal dysfunction was identified in 14 children in 9 Afrikaner families in South Africa. The renal involvement, which is of the Fanconi type, leads to rickets‐like skeletal changes and kidney failure. Each of the children was initially misdiagnosed as having retinitis pigmentosa or Usher syndrome, on a basis of minor retinal pigmentation. This condition, which appears to be a hitherto undocumented entity, warrants differentiation from these disorders.