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Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: an autosomal recessive syndrome?
P Beighton1, L Bartmann, G Bingham
1Department of Human Genetics, Medical School, University of Cape Town, South Africa.
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.
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