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Arch Ophthalmol. 1996 Sep;114(9):1136-8.

Norrie disease. Diagnosis of a simplex case by DNA analysis.

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Department of Ophthalmology, Massachusetts Eye and Ear Infirmiary, Boston, USA.


Norrie disease is a rare, X-linked recessive disorder characterized by congenital blindness due to malformed retinas. We describe a simplex patient who had leukokoria and whose clinical diagnosis was confirmed only after molecular genetics analysis. DNA analysis was also used to determine the carrier status of relatives of the proband.

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