Drenser Kimberly A, Dailey Wendy, Capone Antonio, Trese Michael T
William Beaumont Hospital, Royal Oak, MI, USA.
Ophthalmic Genet. 2006 Sep;27(3):75-8. doi: 10.1080/13816810600862402.
To determine the usefulness of genetic analysis for confirming the diagnosis of X-linked familial exudative vitreoretinopathy (FEVR) and verifying the mode of inheritance.
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.
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.
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.
确定基因分析在确诊X连锁家族性渗出性玻璃体视网膜病变（FEVR）及验证遗传方式方面的作用。
连续纳入27例诊断为FEVR的患者进行基因分析。所有患者均接受散瞳眼底检查。检查时获取完整的出生、医疗及家族史。根据性别和家族史对患者进行分类，以识别X连锁FEVR。参与者提供血样进行分析，并通过直接测序评估诺里病基因（NDP）的突变情况。
在27例纳入患者中，4例男性患者的家系符合X连锁遗传，12例男性患者几乎没有家族史。在这16例患者中，有2例被发现NDP基因存在错义突变。
我们发现对NDP进行基因检测有助于确诊男性患者的X连锁FEVR，尤其是在家族史有限的情况下。随着基因诊断技术的改进，我们认为通过基因评估和咨询来确诊并更好地告知患者，在眼科临床实践中将变得更有用。
