IDENTIFICATION OF A RECURRENT MISSENSE MUTATION IN THE NORRIE-DISEASEGENE ASSOCIATED WITH A SIMPLEX CASE OF EXUDATIVE VITREORETINOPATHY

Disorders such as Norrie disease, X-linked familial exudative vitreore tinopathy, retinopathy of prematurity and X-linked primary vitreoretin al dysplasia have very similar clinical manifestations. They exhibit r etinal fold, retinal detachment, retinal traction and the formation of retrolental fibrovascular membrane. In order to identify carriers for these disorders and provide precise genetic counseling of the relativ es, a molecular genetic analysis will be helpful. This report describe s the results of Norrie disease gene analysis in simplex cases of exud ative vitreoretinopathy. The identification of a recurrent mutation in the Norrie disease gene in a simplex case of exudative vitreoretinopa thy further strengthens the notion that Norrie disease and exudative v itreoretinopathy are allelic disorders. (C) 1998 Academic Press.