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W.–C. Wu, K. Drenser, M. Trese, W. Dailey; Genetype: Phenotype Correlation of Pediatric Vitreoretinopathies Expressing a Norrie’s Mutation . Invest. Ophthalmol. Vis. Sci. 2006;47(13):4607.
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© ARVO (1962-2015); The Authors (2016-present)
To correlate the clinical presentations of patients with pediatric vitreoretinopathies to the mutations affecting the Norrie disease gene.
A total of 155 subjects with diverse pediatric vitreoretinopathies (Norrie’s disease, N=3; Familiar exudative vitreoretinopathy (FEVR), N= 32 ; Persistent fetal vascularture syndrome (PFVS), N= 5; X–linked congenital retinal schisis (XLRS), N= 19 ; Retinopathy of prematurity (ROP), N= 96) were enrolled in the study. All patients underwent direct sequencing of the Norrie disease gene. Five polymerase chain reaction primer pairs spanning the Norrie disease gene were optimized for direct sequencing. The primers covered the coding region and spanned the 3’ and 5’ untranslated region (UTR).
A small number of patients diagnosed with Norrie’s Disease, FVER, PFVS, and ROP were found to have mutations in the Norrie’s gene. Mutations involved in Cystine knot portion of the Norrie’s protein corresponded with severe retinal dysgenesis. The predicted effect on structural changes of the Norrin correlated well with clinical presentations.
Mutations in the Norrie’s Gene result in variable clinical presentations. Genetic analysis appears to correlate well with the severity of retinal dysgenesis.
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