title: Norrie disease. Diagnosis of a simplex case by DNA analysis.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Massachusetts Eye and Ear Infirmiary, Boston, USA.
authors.forename: E W
authors.initials: EW
authors.lastname: Chynn
authors.forename: D S
authors.initials: DS
authors.lastname: Walton
authors.forename: L B
authors.initials: LB
authors.lastname: Hahn
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001766:Blindness / Q000151:congenital; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis*; D004252:DNA Mutational Analysis; D015353:Eye Enucleation; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D012163:Retinal Detachment / Q000235:genetics / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome
chemical_list: D004247:DNA