先天性小眼球伴视网膜星形细胞瘤1例
摘要
<正>患者男性,37岁。自幼左眼无光感,无眼痛、眼红及眼球突出症状。2003年于当地医院行左眼手术治疗,具体术式不详。因发现左眼突4年,症状逐渐加重,于2017年8月就诊于我院。查体:患者身体状况较好,中枢神经系统及其他系统未见异常。眼部采用国际标准视力表查视力,右眼0. 3,左眼无光感。右眼泪道通畅、无分泌物,结膜无充血,右眼小角膜,直径8 mm,鼻下方角膜白色混浊,表面光滑;眼底
引文
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[4] Bui KM, Leiderman YL, Lim JI, et al. Multifocal retinal astrocytic hamartomas:a case series and review of the literature [J].Retin Cases Brief Rep,2013,7(1):9-13.
[5] Shields JA,Eagle RC,Shields CL,et al. Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex [J]. Arch Ophthalmol,2005,123(6):856-863.
[6] 谢斌羽,李冬梅,魏文斌.先天性小眼球和无眼球的临床特征及眼眶发育的干预治疗进展[J].中国医学前沿杂志(电子版),2014,6(8):18-21.
[7] Fantes J,Ragge NK,Lynch SA, et al. Mutations in SOX2 cause anophthalmia [J]. Nat Genet,2003,33(4):461-463.
[8] Hagstrom SA,Pauer GJ,Reid J,et al.SOX2 mutation causes anophthalmia,hearing loss,and brain anomalies[J]. Am J Med Genet A,2005,138A(2):95-98.
[9] 殷亚男,李慧,俞萍,等.一个先天性小眼球家系致病基因的排除性定位[J].科学通报,2006,51(22):2644-2647.
[10] Faiyaz-U1-Haque M, Zaidi SH, A1-Mureikhi MS, et al. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [J]. Clin Genet,2007,72(2):164-166.
[11] 李文博,林锦镛,陈松,等.视网膜星形细胞瘤二例[J].中华眼科杂志,2006.42(11):1032-1033.
[12] 陈兴旺,蔡善君,潘乐,等.结节性硬化合并双眼视网膜星形细胞错构瘤及室管膜下巨细胞星形细胞瘤一例[J].中华眼科杂志,2015.51(9):701-703.
[2] 范先群,傅希,曾骏文,等译.临床眼科肿瘤学[M].上海:上海科学技术出版社,2008.155-156.
[3] Rowley SA,O'Callaghan FJ,Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study [J].Br Ophthalmol,2001,85(4):420-423.
[4] Bui KM, Leiderman YL, Lim JI, et al. Multifocal retinal astrocytic hamartomas:a case series and review of the literature [J].Retin Cases Brief Rep,2013,7(1):9-13.
[5] Shields JA,Eagle RC,Shields CL,et al. Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex [J]. Arch Ophthalmol,2005,123(6):856-863.
[6] 谢斌羽,李冬梅,魏文斌.先天性小眼球和无眼球的临床特征及眼眶发育的干预治疗进展[J].中国医学前沿杂志(电子版),2014,6(8):18-21.
[7] Fantes J,Ragge NK,Lynch SA, et al. Mutations in SOX2 cause anophthalmia [J]. Nat Genet,2003,33(4):461-463.
[8] Hagstrom SA,Pauer GJ,Reid J,et al.SOX2 mutation causes anophthalmia,hearing loss,and brain anomalies[J]. Am J Med Genet A,2005,138A(2):95-98.
[9] 殷亚男,李慧,俞萍,等.一个先天性小眼球家系致病基因的排除性定位[J].科学通报,2006,51(22):2644-2647.
[10] Faiyaz-U1-Haque M, Zaidi SH, A1-Mureikhi MS, et al. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar [J]. Clin Genet,2007,72(2):164-166.
[11] 李文博,林锦镛,陈松,等.视网膜星形细胞瘤二例[J].中华眼科杂志,2006.42(11):1032-1033.
[12] 陈兴旺,蔡善君,潘乐,等.结节性硬化合并双眼视网膜星形细胞错构瘤及室管膜下巨细胞星形细胞瘤一例[J].中华眼科杂志,2015.51(9):701-703.