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Bilateral NAION and GPIbα gene

机译：双侧Naion和GPIBα基因

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It has been previously reported that one copy of the variable number tandem repeat (VNTR) B alleles of the GPIbα gene increases the risk of non-arteritic ischaemic optic neuropathy (NAION) and the second eye involvement. This is the first case where the presence of both alleles is associated with bilateral NAION. A 52-year-old male presented with loss of vision in one eye and was diagnosed with NAION. The following year, he suffered another attack of NAION in the fellow eye. Genetic testing showed that he had both copies of VNTR B alleles of the GPIbα gene. We report a case of bilateral NAION in the presence of two copies of VNTR B alleles of the GPIbα gene. This may have further implications for the function of platelet glycoproteins.
机译：先前已经报道了GPIBα基因的可变数量串联重复（VNTR）B等位基因的一份拷贝增加了非动力缺血性视神经病变（NAION）和第二只眼睛受累的风险。这是两个等位基因存在与双侧NAION相关的情况。一只52岁的男性，一只眼睛丢失了视力丧失，并被诊断出来患有Naion。第二年，他在眼睛中遭受了另一个国家的攻击。基因检测表明他又拷贝了GPIBα基因的VNTR B等位基因。我们在GPIBα基因的两份VNTR B等位基因存在下报告双侧NAION的情况。这可能对血小板糖蛋白的功能有进一步影响。

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