Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
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DOI：
10.1167/iovs.06-0971
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发表时间：
2007-03-01
影响因子：
4.4
通讯作者：
Berson, Eliot L.
中科院分区：
文献类型：
--
作者：
Sandberg, Michael A.;Rosner, Bernard;Berson, Eliot L.
目的：测量因RPGR突变导致的X连锁视网膜色素变性患者的视力、视野和视网膜电图（ERG）丧失率，并确定这些比率是否与因RHO突变导致的显性视网膜色素变性患者的比率不同。
方法：对113名RPGR突变患者平均随访9.8年，记录其斯内伦视力、戈德曼视野面积（V4e白色测试光）和30Hz（视锥细胞）全视野ERG振幅。在对数据进行删失以消除天花板效应和地板效应后，我们使用纵向回归来估计平均变化率，并将这些比率与先前研究的134名因RHO突变导致的显性视网膜色素变性患者队列进行比较，该队列平均随访8.9年。使用生存分析来比较这两组法定盲的年龄分布。为了解释视力方面的组间差异，对一些患者记录了光学相干断层扫描图像以观察视网膜中央结构。
结果：RPGR突变患者视力、视野面积和ERG振幅的平均年度指数下降率分别为4.0%、4.7%和7.1%。这些比率中的每一个都与零有显著差异（P < 0.001）。视力和视野丧失率明显快于RHO患者的相应比率（分别为1.6%，P < 0.001和2.9%，P = 0.002），而ERG振幅丧失率与RHO患者相当（7.7%，P = 0.39）。RPGR患者法定盲的中位年龄比RHO患者小32岁，这主要是由于视力丧失而非视野丧失。RPGR患者的视力丧失似乎与中心凹变薄有关。
结论：因RPGR突变导致的X连锁视网膜色素变性患者比因RHO突变导致的显性视网膜色素变性患者视力和视野丧失得更快。
PURPOSE. To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations.METHODS. Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes were recorded for an average of 9.8 years in 113 patients with RPGR mutations. After censoring data to eliminate ceiling and floor effects, we used longitudinal regression to estimate mean rates of change and to compare these rates with those of a previously studied cohort of 134 patients with dominant retinitis pigmentosa due to RHO mutations, who were followed for an average of 8.9 years. Survival analysis was used to compare the age distribution of legal blindness in these two groups. To explain group differences in visual acuity, optical coherence tomograms were recorded in some patients to visualize central retinal structure.RESULTS. Mean annual exponential rates of decline for the patients with RPGR mutations were 4.0% for visual acuity, 4.7% for visual field area, and 7.1 % for ERG amplitude. Each of these rates was significantly different from zero (P < 0.001). The rates of visual acuity and visual field loss were significantly faster than the corresponding rates in the RHO patients (1.6%, P < 0.001 and 2.9%, P = 0.002, respectively), whereas the rate of ERG amplitude loss was comparable to that in the RHO patients (7.7%, P = 0.39). The median age of legal blindness was 32 years younger in the RPGR patients than in the RHO patients, due primarily to loss of visual acuity rather than to loss of visual field. Loss of acuity in PPGR patients appeared to be associated with foveal thinning.CONCLUSIONS. Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.