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Article
September 1996

Norrie DiseaseDiagnosis of a Simplex Case by DNA Analysis

Author Affiliations

From the Department of Ophthalmology (Drs Chynn, Walton, and Dryja) and the Ocular Molecular Genetics Laboratory and the Cogan Eye Pathology Laboratory (Ms Hahn and Dr Dryja), Massachusetts Eye and Ear Infirmary, and Department of Pediatrics, Massachusetts General Hospital (Dr Walton), Harvard Medical School, Boston.

Arch Ophthalmol. 1996;114(9):1136-1138. doi:10.1001/archopht.1996.01100140338018
Abstract

N orrie 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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