Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.
Ophthalmic Genet. 2023 Aug;44(4):334-340. doi: 10.1080/13816810.2023.2191708. Epub 2023 Mar 22.
To evaluate self-reported visual function and the psychosocial impact of visual loss EYS-associated retinal degeneration (EYS-RD) using two patient-reported outcome (PRO) measures: Michigan Retinal Degeneration Questionnaire (MRDQ) and Michigan Vision-related Anxiety Questionnaire (MVAQ).
Cross-sectional, single-center study conducted at a tertiary care hospital in Portugal. Patients with biallelic EYS variants were invited to participate. Clinical data including demographics, ETDRS best-corrected visual acuity (BCVA) in the better-seeing eye and genetic testing results were collected. Interviews were carried out during clinic visits or by phone between November 2021 and February 2022. A blind grader used horizontal and vertical spectral domain optical coherence tomography (SD-OCT) scans to manually measure ellipsoid zone (EZ) width in the nasal, temporal, superior and inferior macular quadrants to calculate the EZ area.
Forty-nine patients (53.1% males; mean age 53 ± 14 years) were included. A positive correlation ( < .05) was found between age and most MRDQ domain scores (central vision, color vision, contrast sensitivity, scotopic function, photopic peripheral vision and mesopic peripheral vision). A negative correlation was found between both BCVA and EZ area across all MRDQ domains. In MVAQ, SD-OCT EZ area negatively correlated with both rod function and cone function-related anxiety. Neither age, BCVA or gender correlated with MVAQ domains.
This study provides strong evidence supporting a correlation between PRO measures and both functional and structural clinician-reported outcomes. The use of MRDQ and MVAQ adds a new dimension to our understanding of EYS-RD and establishes both PRO measures as important disease outcome measures.
使用两种患者报告的结局（PRO）测量工具，即密歇根视网膜变性问卷（MRDQ）和密歇根视觉相关焦虑问卷（MVAQ），评估与 EYS 相关的视网膜变性（EYS-RD）的视觉功能和视觉丧失的心理社会影响。
这是一项在葡萄牙一家三级护理医院进行的横断面、单中心研究。邀请具有双等位基因 EYS 变异的患者参与。收集了临床数据，包括人口统计学数据、较好眼的 ETDRS 最佳矫正视力（BCVA）和基因检测结果。访谈在 2021 年 11 月至 2022 年 2 月期间在诊所就诊或通过电话进行。一位盲法分级员使用水平和垂直谱域光学相干断层扫描（SD-OCT）扫描手动测量鼻侧、颞侧、上侧和下侧黄斑象限的椭圆体区（EZ）宽度，以计算 EZ 面积。
共纳入 49 名患者（53.1%为男性；平均年龄 53±14 岁）。MRDQ 各领域得分与年龄呈正相关（ < .05）（中心视力、色觉、对比敏感度、暗视力功能、明视觉周边视力和中间视觉周边视力）。BCVA 与所有 MRDQ 领域的 EZ 面积均呈负相关。在 MVAQ 中，SD-OCT EZ 面积与杆状功能和锥状功能相关的焦虑均呈负相关。年龄、BCVA 或性别与 MVAQ 领域均无相关性。
本研究为 PRO 测量工具与功能和结构临床医生报告的结局之间的相关性提供了有力证据。MRDQ 和 MVAQ 的使用为我们对 EYS-RD 的理解增添了新的维度，并确立了这两种 PRO 测量工具作为重要的疾病结局测量工具。
