Norrie's Disease — An X-Linked Syndrome of Retinal Malformation, Mental Retardation and Deafness

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Abstract
WE have recently evaluated a family in which six males in four generations were affected with Norrie's disease, an X-linked syndrome of retinal malformation, mental retardation and deafness. In spite of the positive family history, alternate diagnoses, such as retrolental fibroplasia, pseudoglioma, and congenital taxoplasmosis were suggested for these patients. A general lack of awareness of this syndrome was probably responsible for these incorrect diagnoses. Only one family1 in the United States has been reported as having Norrie's disease; a second family2 with X-linked recessive microphthalmia probably had Norrie's disease. This can be contrasted to Denmark and Sweden, where Warburg . . .

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