In-utero diagnosis of Norrie disease by ultrasonography.
作者信息
Redmond R M, Vaughan J I, Jay M, Jay B
机构信息
Moorfields Eye Hospital, London, UK.
出版信息
Ophthalmic Paediatr Genet. 1993 Mar;14(1):1-3. doi: 10.3109/13816819309087615.
PMID:8345950
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.
摘要
Zotero 插件