Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: an autosomal recessive syndrome?
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.
Beighton
P
P
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Bartmann
L
L
Bingham
G
G
Sellars
S
S
D000293:Adolescent; D002648:Child; D003638:Deafness / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D008297:Male; D011859:Radiography; D012164:Retinal Diseases / Q000235:genetics*; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome