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Diagnosis of a Simplex Case by DNA Analysis

Emil W. Chynn, MD; David S. Walton, MD; Lauri B. Hahn, MS; Thaddeus P. Dryja, MD

Arch Ophthalmol. 1996;114(9):1136-1138.

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.

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.

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