Aung T, Okada K, Poinoosawmy D, Membrey L, Brice G, Child A H, Bhattacharya S S, Lehmann O J, Garway-Heath D F, Hitchings R A
Moorfields Eye Hospital, London, UK.
Br J Ophthalmol. 2003 Feb;87(2):149-52. doi: 10.1136/bjo.87.2.149.
Polymorphisms in OPA1, the gene responsible for autosomal dominant optic atrophy, were recently found to be strongly associated with normal tension glaucoma (NTG). The aim of this study was to determine whether OPA1 polymorphisms affect the phenotype of NTG patients.
A retrospective analysis was performed of 108 well characterised NTG patients who had been genotyped for OPA1 variations, and who had previously undergone automated perimetry and Heidelberg retina tomography (HRT). 25 NTG patients had the at-risk OPA1 genotype (IVS 8 +4 C/T; +32 T/C) and 83 NTG patients did not. Differences between groups were sought in a wide range of structural, psychophysical, and demographic factors. These included sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, laterality of glaucoma, presenting and highest diurnal intraocular pressure (IOP), initial cup-disc (CD) ratio, baseline visual field global indices, and optic disc parameters as measured by HRT. For a subgroup of patients with at least 5 years of follow up and 10 visual field tests, pointwise linear regression analysis (PROGRESSOR for Windows software) was applied to the visual field series.
There was no significant difference in the two groups with respect to sex, age at diagnosis, family history of glaucoma, history of ischaemic risk factors and vasospasm, or laterality of glaucoma. The comparison of IOP, CD ratio and visual field global indices, MD and CPSD in the two groups showed no significant difference. There were no differences in the mean values for any of the HRT parameters analysed. For the subgroup of patients with at least 5 years of follow up, there was also no significant difference in the number of patients with progressing locations, the mean number of progressing locations per subject, the mean slope of the progressing locations or the mean slope for whole visual field.
The absence of phenotypic differences in normal tension glaucoma patients with and without the OPA1 polymorphisms IVS 8 +4 C/T; +32 T/C suggest that these OPA1 polymorphisms do not underlie any major phenotypic diversity in these patients.
最近发现，常染色体显性遗传性视神经萎缩相关基因OPA1的多态性与正常眼压性青光眼（NTG）密切相关。本研究旨在确定OPA1多态性是否会影响NTG患者的表型。
对108例特征明确的NTG患者进行回顾性分析，这些患者已对OPA1变异进行基因分型，且之前已接受自动视野检查和海德堡视网膜断层扫描（HRT）。25例NTG患者具有OPA1风险基因型（IVS 8 +4 C/T；+32 T/C），83例NTG患者没有。在广泛的结构、心理物理学和人口统计学因素中寻找两组之间的差异。这些因素包括性别、诊断时年龄、青光眼家族史、缺血性危险因素和血管痉挛病史、青光眼的患侧、就诊时和最高日眼压（IOP）、初始杯盘（CD）比、基线视野全局指标以及通过HRT测量的视盘参数。对于至少随访5年且进行了10次视野检查的患者亚组，对视野系列应用逐点线性回归分析（Windows版PROGRESSOR软件）。
两组在性别、诊断时年龄、青光眼家族史、缺血性危险因素和血管痉挛病史或青光眼患侧方面无显著差异。两组IOP、CD比和视野全局指标、平均缺损（MD）和校正模式标准差（CPSD）的比较无显著差异。所分析的任何HRT参数的平均值均无差异。对于至少随访5年的患者亚组，进展部位的患者数量、每个受试者进展部位的平均数量、进展部位的平均斜率或整个视野的平均斜率也无显著差异。
具有和不具有OPA1多态性IVS 8 +4 C/T；+32 T/C的正常眼压性青光眼患者之间不存在表型差异，这表明这些OPA1多态性并非这些患者任何主要表型多样性的基础。
