Genetic Analysis of Children Diagnosed With X–Linked Familial Exudative Vitreoretinopathy

Abstract

Abstract: : Purpose: As part of our pediatric DNA registry, we evaluated the Norrie disease gene in order to assess the prevalence of mutations occurring in children diagnosed with familial exudative vitreoretinopathy (FEVR) that appeared to be inherited in an X–linked fashion. Methods: All children enrolled were consented to have their clinical work–up added to our database as well as provide a blood sample for genetic testing. Genomic DNA was extracted from the blood samples. PCR amplification of the Norrie disease gene (NDP) was performed and followed by direct sequencing. The DNA and amino acid sequences were then compared to the wild–type sequences for mutations. Results: : A total of 6 children with X–linked FEVR were enrolled. Analysis revealed one patient to have a mutation in the third exon of the NDP gene, resulting in a missense mutation at amino acid 121 (R to W). No other children were found to have a mutation in the NDP gene. Conclusions: Mutations in the NDP gene have been associated with X–linked FEVR. However, many patients diagnosed with X–linked FEVR are not found to have mutations, suggesting that other genes may be involved.

Keywords: cell-cell communication • genetics • retinal neovascularization