Genetic Evaluation to Establish the Diagnosis of X-Linked Familial Exudative Vitreoretinopathy

Abstract

Purpose: To determine the usefulness of genetic analysis for confirming the diagnosis of X-linked familial exudative vitreoretinopathy (FEVR) and verifying the mode of inheritance. Methods: Twenty-seven consecutive patients diagnosed with FEVR were enrolled for genetic analysis. All patients underwent dilated fundus examination. A complete birth, medical, and family history was obtained at the time of examination. Patients were categorized by gender and family history in an effort to identify X-linked FEVR. Participants provided a blood sample for analysis and were evaluated for a mutation in the Norrie's disease gene (NDP) by direct sequencing. Results: Of the 27 enrolled patients, four male patients had a pedigree consistent with X-linked inheritance and 12 male patients had little or no family history. Two of these 16 patients were found to have a missense mutation in the NDP gene. Conclusions: We found genetic testing of NDP to be helpful in confirming the diagnosis of X-linked FEVR in male patients, especially when limited family history was available. As genetic diagnostics improve, we feel that confirming diagnoses and informing patients better through genetic evaluation and consultation will become more useful in the clinical practice of ophthalmology.