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The oculocerebral syndrome in association with generalised hypopigmentation. A case report
D J Castle1, T Jenkins, A A Shawinsky
1Department of Human Genetics, School of Pathology of the South African Institute for Medical Research, Johannesburg.
Abstract:
A 14-year-old girl with generalised hypopigmentation, mental retardation, abnormal movements, and ocular anomalies is described. It is suggested that she represents a further case of oculocerebral albinism, a rare autosomal recessive condition. Reference is made to previous similar cases.