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Published on: June 29, 2013
In-utero diagnosis of Norrie disease by ultrasonography
R M Redmond1, J I Vaughan, M Jay
1Moorfields Eye Hospital, London, UK.
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.
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