INUTERO DIAGNOSIS OF NORRIE DISEASE BY ULTRASONOGRAPHY

Authors
REDMOND RM VAUGHAN JI JAY M JAY B
Citation
Rm. Redmond et al., INUTERO DIAGNOSIS OF NORRIE DISEASE BY ULTRASONOGRAPHY, Ophthalmic paediatrics and genetics, 14(1), 1993, pp. 1-3
Citations number
NO
Categorie Soggetti
Pediatrics,Ophthalmology
Journal title
Ophthalmic paediatrics and genetics → ACNP
ISSN journal
01676784
Volume
14
Issue
1
Year of publication
1993
Pages
1 - 3
Database
ISI
SICI code
0167-6784(1993)14:1<1:IDONDB>2.0.ZU;2-R
Abstract
Obstetric ultrasonography of an obligate Norrie disease carrier reveal ed bilateral retinal detachments in a third trimester male fetus. Post natal examination confirmed the diagnosis of Norrie disease. DNA linka ge 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.