Recessive, sex‐I inked, progressive, oculocerebral degeneration
- 1 November 1970
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 1 (5-6) , 353-356
- https://doi.org/10.1111/j.1399-0004.1970.tb02254.x
Abstract
Norrie's disease is a rare condition with a recessive sex‐linked mode of inheritance, blindness with progressive ocular degeneration, and mental retardation of varying severity. Deafness and epilepsy may occasionally occur.The findings in a 42‐year‐old, male, mentally retarded patient suffering from Norrie's disease are reported. His family tree is noted and the differential diagnosis of this condition is discussed.Keywords
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