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.
Chynn EW, Walton DS, Hahn LB, Dryja TP. Norrie DiseaseDiagnosis of a Simplex Case by DNA Analysis. Arch Ophthalmol. 1996;114(9):1136-1138. doi:10.1001/archopht.1996.01100140338018