双侧视盘前部缺血性视神经病变与糖蛋白Ibα基因
Bilateral NAION and GPIbα gene.
作者信息
Lim Christina S, Sarkar Ajoy, Knapp Christopher
机构信息
Ophthalmology Department, Lincoln County Hospital, Greetwell Road, Lincoln, Lincolnshire, UK.
Present Address: Ophthalmology Department, Northampton General Hospital, Cliftonville Road, Northampton, UK.
出版信息
BMC Ophthalmol. 2019 Jan 7;19(1):5. doi: 10.1186/s12886-018-1010-0.
BACKGROUND
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.
CASE PRESENTATION
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.
CONCLUSIONS
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.
背景
先前已有报道称，糖蛋白Ibα（GPIbα）基因可变数目串联重复序列（VNTR）的B等位基因单拷贝会增加非动脉炎性缺血性视神经病变（NAION）及对侧眼受累的风险。这是首例两个等位基因均存在与双侧NAION相关的病例。
病例报告
一名52岁男性因单眼视力丧失就诊，被诊断为NAION。次年，其对侧眼又发作了一次NAION。基因检测显示，他拥有GPIbα基因VNTR B等位基因的两个拷贝。
结论
我们报告了一例在存在GPIbα基因VNTR B等位基因两个拷贝的情况下发生双侧NAION的病例。这可能对血小板糖蛋白的功能有进一步影响。
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