目的:使用静态视野检查(SP)评估USH2A相关视网膜变性患者的疾病进展,包括Usher综合征2型(USH2)和非综合征型常染色体隐性遗传性视网膜色素变性(ARRP)。
方法:前瞻性,观察性队列研究。
方法:设置:欧洲和北美的16个临床地点。
方法:研究参与者具有USH2A双等位基因致病序列变异,基线最佳矫正视力(BCVA)字母评分≥54(N=102)。
方法:SP,BCVA,全场刺激阈值(FST),谱域光学相干断层扫描黄斑扫描,基线时和每年进行眼底引导的中眼显微视野检查(MP)。
方法:总视野山(VTOT),中心30°视力山(V30),VTOT-V30(VPERIPH),意味着敏感性。
结果:VTOT的平均下降(95%CI)为2.05(1.40,2.70)分贝-胸地(dB-sr)/年,V30为0.48(0.32,0.65)dB-sr/年,VPERIPH为1.53(0.97,2.08)dB-sr/年,平均灵敏度为0.55(0.40,0.71)dB/年。VTOT的平均下降百分比为8.3(5.5,11.1)%/年,V30为5.2(3.0,7.4)%/年,VPERIPH为16.0(9.5,22.0)%/年,平均敏感度为5.1%(3.5、6.7%)/年。所有SP指标从基线到第2年的变化高度相关[rs范围从0.52(V30vsVPERIPH)到0.98(VTOTvsVperiph)]。
结论:在USH2A相关的视网膜变性中,SP的定量测量值在2年内显著下降。VTOT和VPERIPH的年变化率最大,而V30和平均灵敏度变化最小,反映更早和更严重的外周退化相比,中枢丢失。
To evaluate disease progression using static perimetry (SP) in patients with USH2A-related retinal degeneration, including Usher syndrome type 2 (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa.
Prospective, observational cohort
study.
A total of 102 patients with biallelic disease-causing sequence variants in USH2A with baseline best-corrected visual acuity (BCVA) letter score ≥54 were recruited from 16 clinical sites in Europe and North America. SP, BCVA, full-field stimulus thresholds, spectral domain optical coherence tomography macular scans, and fundus-guided mesopic microperimetry were performed at baseline and annually. The main outcome measures were total hill of vision (VTOT), hill of vision in the central 30° (V30), VTOT minus V30 (VPERIPH), and mean sensitivity.
The average decline (95% CI) was 2.05 (1.40, 2.70) decibel-steradian (dB-sr)/y for VTOT, 0.48 (0.32, 0.65) dB-sr/y for V30, 1.53 (0.97, 2.08) dB-sr/y for VPERIPH, and 0.55 (0.40, 0.71) dB/y for mean sensitivity. Average percentage decline per year was 8.3 (5.5, 11.1) for VTOT, 5.2 (3.0, 7.4) for V30, 16.0 (9.5, 22.0) for VPERIPH, and 5.1 (3.5, 6.7) for mean sensitivity. Changes from baseline to year 2 in all SP measures were highly correlated (r\'s ranging from 0.52 [V30 vs VPERIPH] to 0.98 [VTOT vs VPERIPH]).
Quantitative measures of SP declined significantly over 2 years in USH2A-related retinal degeneration. The annual percentage rate of change was greatest for VTOT and VPERIPH, whereas V30 and mean sensitivity changed least, reflecting earlier and more severe peripheral degeneration compared with central loss.