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Recessive, sex‐I inked, progressive, oculocerebral degeneration
Author(s) -
Jancar J.
Publication year - 1970
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1970.tb02254.x
Subject(s) - degeneration (medical) , blindness , medicine , disease , pediatrics , differential diagnosis , mental deficiency , inheritance (genetic algorithm) , x linked recessive inheritance , epilepsy , psychiatry , ophthalmology , pathology , genetics , x chromosome , biology , gene , optometry
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.