Abstract：
OBJECTIVE: The purpose of the study was to evaluate vision-related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA).
METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 mutation-free first-degree relatives and 92 healthy subjects unrelated to the families. Participants underwent a clinical eye examination, and adult participants completed the National Eye Institute Visual Function Questionnaire (NEI-VFQ-39), while children completed the Cardiff Visual Ability Questionnaire for Children (CVAQC).
RESULTS: In adults with ADOA, both mean visual acuity (VA) and mean contrast sensitivity (CS) were significantly inferior to both first-degree relatives and unrelated controls (p < 0.001). In children with ADOA, mean VA was significantly lower compared with first-degree relatives (p = 0.0052), whereas CS was not (0.127). Adults with ADOA scored lower than both comparator groups on composite score (p < 0.001), general health subscale (p = 0.0075) and all vision-related subscales (p < 0.001) except the ocular pain subscale (p = 0.2). In children with ADOA, the median CVAQC logit score was significantly lower compared with first-degree relatives (p = 0.037). The science lessons subscale was significantly lower for children with ADOA compared with first-degree relatives (p = 0.046), as well as the language lessons subscale (p = 0.038). For adults, composite score and subscale scores were significantly associated with both VA, CS and fixation status.
CONCLUSIONS: OPA1 mutation is associated with lower quality of life and visual ability in patients with ADOA compared with both first-degree relatives and unrelated controls. VA, CS and fixation status affect quality of life in patients with ADOA.
METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 mutation-free first-degree relatives and 92 healthy subjects unrelated to the families. Participants underwent a clinical eye examination, and adult participants completed the National Eye Institute Visual Function Questionnaire (NEI-VFQ-39), while children completed the Cardiff Visual Ability Questionnaire for Children (CVAQC).
RESULTS: In adults with ADOA, both mean visual acuity (VA) and mean contrast sensitivity (CS) were significantly inferior to both first-degree relatives and unrelated controls (p < 0.001). In children with ADOA, mean VA was significantly lower compared with first-degree relatives (p = 0.0052), whereas CS was not (0.127). Adults with ADOA scored lower than both comparator groups on composite score (p < 0.001), general health subscale (p = 0.0075) and all vision-related subscales (p < 0.001) except the ocular pain subscale (p = 0.2). In children with ADOA, the median CVAQC logit score was significantly lower compared with first-degree relatives (p = 0.037). The science lessons subscale was significantly lower for children with ADOA compared with first-degree relatives (p = 0.046), as well as the language lessons subscale (p = 0.038). For adults, composite score and subscale scores were significantly associated with both VA, CS and fixation status.
CONCLUSIONS: OPA1 mutation is associated with lower quality of life and visual ability in patients with ADOA compared with both first-degree relatives and unrelated controls. VA, CS and fixation status affect quality of life in patients with ADOA.
摘要：
目的：该研究的目的是评估OPA1常染色体显性遗传性视神经萎缩（ADOA）患者的视觉相关生活质量和视觉能力。
方法：这个横截面，观察性研究包括145名与ADOA相关的OPA1基因突变的参与者，63名无突变一级亲属和92名与家庭无关的健康受试者。参与者接受了临床眼科检查，和成人参与者完成了国家眼科研究所视觉功能问卷（NEI-VFQ-39），而儿童完成了儿童卡迪夫视觉能力问卷（CVAQC）。
结果：在患有ADOA的成年人中，平均视力(VA)和平均对比敏感度(CS)均显著低于一级亲属和无关对照(p<0.001).在患有ADOA的儿童中，平均VA显著低于一级亲属（p=0.0052），而CS不是（0.127）。患有ADOA的成年人在综合评分上得分低于两个比较组(p<0.001)，一般健康分量表(p=0.0075)和除眼痛分量表(p=0.2)外的所有视力相关分量表(p<0.001).在患有ADOA的儿童中，与一级亲属相比,CVAQClogit评分中位数显著较低(p=0.037).与一级亲属相比，ADOA儿童的科学课量表显着降低（p=0.046），以及语言课程分量表(p=0.038)。对于成年人来说,综合评分和分量表评分与两个VA显着相关，CS和固定状态。
结论：与一级亲属和无关对照相比，OPA1突变与ADOA患者的生活质量和视觉能力降低相关。VA,CS和固定状态影响ADOA患者的生活质量。
方法：这个横截面，观察性研究包括145名与ADOA相关的OPA1基因突变的参与者，63名无突变一级亲属和92名与家庭无关的健康受试者。参与者接受了临床眼科检查，和成人参与者完成了国家眼科研究所视觉功能问卷（NEI-VFQ-39），而儿童完成了儿童卡迪夫视觉能力问卷（CVAQC）。
结果：在患有ADOA的成年人中，平均视力(VA)和平均对比敏感度(CS)均显著低于一级亲属和无关对照(p<0.001).在患有ADOA的儿童中，平均VA显著低于一级亲属（p=0.0052），而CS不是（0.127）。患有ADOA的成年人在综合评分上得分低于两个比较组(p<0.001)，一般健康分量表(p=0.0075)和除眼痛分量表(p=0.2)外的所有视力相关分量表(p<0.001).在患有ADOA的儿童中，与一级亲属相比,CVAQClogit评分中位数显著较低(p=0.037).与一级亲属相比，ADOA儿童的科学课量表显着降低（p=0.046），以及语言课程分量表(p=0.038)。对于成年人来说,综合评分和分量表评分与两个VA显着相关，CS和固定状态。
结论：与一级亲属和无关对照相比，OPA1突变与ADOA患者的生活质量和视觉能力降低相关。VA,CS和固定状态影响ADOA患者的生活质量。
