携带视神经病相关蛋白基因E50K突变的青光眼患者的临床特征及病程

Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.

作者信息

Aung Tin, Rezaie Tayebeh, Okada Koji, Viswanathan Ananth C, Child Anne H, Brice Glen, Bhattacharya Shomi S, Lehmann Ordan J, Sarfarazi Mansoor, Hitchings Roger A

机构信息

Moorfields Eye Hospital, London, United Kingdom.

出版信息

Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2816-22. doi: 10.1167/iovs.04-1133.

DOI:10.1167/iovs.04-1133

PMID:16043855

Abstract

PURPOSE

To investigate the clinical features of subjects with glaucoma with the E50K mutation in the optineurin (OPTN) gene and to compare the onset, severity, and clinical course of these patients with a control group of subjects with glaucoma without this mutation.

METHODS

The phenotype of well-characterized subjects from Moorfields Eye Hospital, London, who had been identified as carrying the OPTN E50K mutation was examined. A wide range of structural, psychophysical, and demographic factors were then compared with those in a control group of subjects with glaucoma without this mutation.

RESULTS

Eleven subjects with glaucoma with the E50K mutation (nine in two families and two sporadic cases) were studied. All 11 subjects had normal tension glaucoma (NTG), with presenting and highest IOP of 15.3 +/- 3.0 and 16.5 +/- 2.5 mm Hg (+/-SD) on diurnal testing. Compared with 87 NTG control subjects who did not have this mutation, subjects with E50K presented at a younger age (40.8 +/- 15 years, P = 0.0001) and had more advanced optic disc cupping (mean cup-disc ratio +/- SD 0.86 +/- 0.1, P = 0.001) and smaller neuroretinal rim area (+/-SD; 0.5 +/- 0.28 mm2, P = 0.001) at diagnosis. The rate of filtration surgery performed for progressive visual field loss in those with and without the E50K mutation was 72.7% and 25.3%, respectively (P = 0.003), and all subjects with E50K were found to have progressing visual fields. In addition, seven E50K mutation-carrying individuals in two families (age range, 23-58 years) presented with normal optic discs and visual fields and, as yet, no signs of glaucoma.

CONCLUSIONS

In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG that appeared to be more severe than that in a control group of subjects with NTG without this mutation. The findings emphasize the importance of early detection and treatment of glaucoma in such individuals, to minimize visual loss.

摘要

目的

研究携带视神经元(OPTN)基因E50K突变的青光眼患者的临床特征，并将这些患者的发病、严重程度及临床病程与未发生该突变的青光眼对照组进行比较。

方法

对伦敦摩尔菲尔德眼科医院已确诊携带OPTN E50K突变的特征明确的患者的表型进行检查。然后将一系列结构、心理物理学和人口统计学因素与未发生该突变的青光眼对照组进行比较。

结果

研究了11例携带E50K突变的青光眼患者（两个家族中的9例和2例散发病例）。所有11例患者均为正常眼压性青光眼(NTG)，日间眼压测量时的初始眼压和最高眼压分别为15.3±3.0和16.5±2.5 mmHg(±标准差)。与87例未发生该突变的NTG对照患者相比，携带E50K突变的患者发病年龄更年轻(40.8±15岁，P=0.0001)，诊断时视盘杯盘比更大(平均杯盘比±标准差为0.86±0.1，P=0.001)，神经视网膜边缘面积更小(±标准差；0.5±0.28 mm2，P=0.001)。因进行性视野缺损而接受滤过手术的患者中，携带和未携带E50K突变的比例分别为72.7%和25.3%(P=0.003)，所有携带E50K突变的患者均存在视野进展。此外，两个家族中的7例携带E50K突变的个体（年龄范围为23 - 58岁）视盘和视野正常，目前尚无青光眼迹象。