Norrie disease. Diagnosis of a simplex case by DNA analysis
E. W. Chynn, D. S. Walton, L. B. Hahn and T. P. Dryja
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.
