PDF(Pubmed)
Abstract：
UNASSIGNED: The purpose of this study was to evaluate self-reported functional vision (FV) and the impact of vision loss in patients with USH2A-associated retinal degeneration using a patient-reported outcome (PRO) measure, the Michigan Retinal Degeneration Questionnaire (MRDQ), to correlate MRDQ scores with well-established visual function measurements.
UNASSIGNED: An observational cross-sectional study (n = 93) of participants who had Usher Syndrome Type 2 (USH2, n = 55) or autosomal recessive non-syndromic retinitis pigmentosa (ARRP; n = 38) associated with biallelic variants in the USH2A gene.
UNASSIGNED: The study protocol was approved by all ethics boards and informed consent was obtained from each participant. Participants completed the MRDQ at the 48-month study follow-up visit. Disease duration was self-reported by participants. One-way ANOVA was used to compare subgroups (clinical diagnosis, age, disease duration, and full-field stimulus threshold [FST] Blue-Red mediation) on mean scores per domain. Spearman correlation coefficients were used to assess associations between MRDQ domains and visual/retinal function assessments.
UNASSIGNED: Of the study sample, 58% were female participants and the median disease duration was 13 years. MRDQ domains were sensitive to differences between subgroups of clinical diagnosis, age, disease duration, and FST Blue-Red mediation. MRDQ domains correlated with static perimetry, microperimetry, full-field stimulus testing, and best-corrected visual acuity (BCVA).
UNASSIGNED: Self-reported FV measured by the MRDQ, when applied to USH2 and ARRP participants, had good distributional characteristics and correlated well with visual function tests. MRDQ adds a new dimension of understanding on vision-related functioning and establishes this PRO tool as an informative measure in evaluating USH2A outcomes.
UNASSIGNED: An observational cross-sectional study (n = 93) of participants who had Usher Syndrome Type 2 (USH2, n = 55) or autosomal recessive non-syndromic retinitis pigmentosa (ARRP; n = 38) associated with biallelic variants in the USH2A gene.
UNASSIGNED: The study protocol was approved by all ethics boards and informed consent was obtained from each participant. Participants completed the MRDQ at the 48-month study follow-up visit. Disease duration was self-reported by participants. One-way ANOVA was used to compare subgroups (clinical diagnosis, age, disease duration, and full-field stimulus threshold [FST] Blue-Red mediation) on mean scores per domain. Spearman correlation coefficients were used to assess associations between MRDQ domains and visual/retinal function assessments.
UNASSIGNED: Of the study sample, 58% were female participants and the median disease duration was 13 years. MRDQ domains were sensitive to differences between subgroups of clinical diagnosis, age, disease duration, and FST Blue-Red mediation. MRDQ domains correlated with static perimetry, microperimetry, full-field stimulus testing, and best-corrected visual acuity (BCVA).
UNASSIGNED: Self-reported FV measured by the MRDQ, when applied to USH2 and ARRP participants, had good distributional characteristics and correlated well with visual function tests. MRDQ adds a new dimension of understanding on vision-related functioning and establishes this PRO tool as an informative measure in evaluating USH2A outcomes.
摘要：
■这项研究的目的是使用患者报告的结果（PRO）评估USH2A相关视网膜变性患者的自我报告功能视力（FV）和视力丧失的影响。密歇根视网膜变性问卷(MRDQ)，将MRDQ评分与完善的视觉功能测量结果相关联。
■一项观察性横断面研究（n=93），参与者患有Usher综合征2型（USH2，n=55）或常染色体隐性遗传性非综合征性视网膜色素变性（ARRP；n=38）与USH2A基因的双等位基因变异相关。
■研究方案得到所有伦理委员会的批准，并获得每位参与者的知情同意。参与者在48个月的研究随访中完成了MRDQ。疾病持续时间由参与者自我报告。单因素方差分析用于比较亚组(临床诊断，年龄,疾病持续时间,和全场刺激阈值[FST]蓝红中介)在每个域的平均分数上。使用Spearman相关系数评估MRDQ域与视觉/视网膜功能评估之间的关联。
■在研究样本中，58％为女性参与者，中位病程为13年。MRDQ结构域对临床诊断亚组之间的差异敏感，年龄,疾病持续时间,和FST蓝红调解。与静态视野检查相关的MRDQ域，显微视野,全场刺激测试，和最佳矫正视力（BCVA）。
■由MRDQ测量的自报告FV，当应用于USH2和ARRP参与者时，具有良好的分布特征，与视觉功能测试具有良好的相关性。MRDQ增加了对视觉相关功能的理解的新维度，并将此PRO工具确立为评估USH2A结果的信息度量。
■一项观察性横断面研究（n=93），参与者患有Usher综合征2型（USH2，n=55）或常染色体隐性遗传性非综合征性视网膜色素变性（ARRP；n=38）与USH2A基因的双等位基因变异相关。
■研究方案得到所有伦理委员会的批准，并获得每位参与者的知情同意。参与者在48个月的研究随访中完成了MRDQ。疾病持续时间由参与者自我报告。单因素方差分析用于比较亚组(临床诊断，年龄,疾病持续时间,和全场刺激阈值[FST]蓝红中介)在每个域的平均分数上。使用Spearman相关系数评估MRDQ域与视觉/视网膜功能评估之间的关联。
■在研究样本中，58％为女性参与者，中位病程为13年。MRDQ结构域对临床诊断亚组之间的差异敏感，年龄,疾病持续时间,和FST蓝红调解。与静态视野检查相关的MRDQ域，显微视野,全场刺激测试，和最佳矫正视力（BCVA）。
■由MRDQ测量的自报告FV，当应用于USH2和ARRP参与者时，具有良好的分布特征，与视觉功能测试具有良好的相关性。MRDQ增加了对视觉相关功能的理解的新维度，并将此PRO工具确立为评估USH2A结果的信息度量。
