title: In-utero diagnosis of Norrie disease by ultrasonography.
abstract: Obstetric ultrasonography of an obligate Norrie disease carrier revealed bilateral retinal detachments in a third trimester male fetus. Postnatal examination confirmed the diagnosis of Norrie disease. DNA linkage analysis with the markers L1.28 and MAO had been uninformative for this family. This report suggests that retinal detachment occurs late in the gestation of the affected fetus.
authors.affiliation: Moorfields Eye Hospital, London, UK.
authors.forename: R M
authors.initials: RM
authors.lastname: Redmond
authors.forename: J I
authors.initials: JI
authors.lastname: Vaughan
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: B
authors.initials: B
authors.lastname: Jay
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D011247:Pregnancy; D012160:Retina / Q000002:abnormalities; D012163:Retinal Detachment / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal; D014960:X Chromosome