Journal article

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

Joanne L Dickinson, Michele M Sale, Abraham Passmore, Liesel M FitzGerald, Catherine M Wheatley, Kathryn P Burdon, Jamie E Craig, Supaporn Tengtrisorn, Susan M Carden, Hector Maclean, David A Mackey

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WILEY | Published : 2006

Abstract

BACKGROUND: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X-linked familial exudative vitreoretinopathy (FEVR), Coat's disease and retinopathy of prematurity (ROP). METHODS: A dataset comprising 13 Norrie-FEVR, one Coat's disease, 31 ROP patients and 90 ex-premature babies of <32 weeks' gestation underwent an ophthalmologic examination and were screened for mutations within the NDP gene by direct DNA sequencing, denaturing high-performance liquid chromatography or gel electrophoresis. Controls were only screened using denaturing high-performance liquid chromatography and gel electrophoresis. Confirmati..

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