From the Departments of Ophthalmology and Vision Sciences, The Hospital for Sick Children, The University of Toronto (E.H.), Toronto, Ontario, Canada.
Jaeb Center for Health Research (M.M., L.E.B., L.S., A.R.A.), Tampa, Florida, USA.
Am J Ophthalmol. 2024 Apr;260:200-211. doi: 10.1016/j.ajo.2023.12.009. Epub 2023 Dec 21.
To describe functional vision (FV) and investigate the relationship between FV, visual acuity (VA), and hill of vision (V) at baseline in patients with biallelic USH2A variants.
Multicenter, international, cross-sectional study.
In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations. The VALVVFQ-48 was administered verbally to participants ≥18 years old. VA was measured in both eyes; V was determined from static perimetry in the study eye (better VA). FV scores were calculated using Rasch analysis.
Median age of 121 participants (76 with USH2, 45 with ARRP) was 41 years (range: 19-80); 54% were female. FV scores varied from -2.0 to 7.6 logits (median [interquartile range (IQR)]: 2.8 [1.5-3.8]). ARRP and USH2 participants had similar FV scores, both before [mean (95% CI): 2.8 (2.3-3.4) and 2.7 (2.3-3.2), respectively], and after [mean (95% CI): 2.5 (2.1-3.0) and 2.9 (2.6-3.3), respectively; P = .24] adjusting for age, VA, disease duration, and V. VA and V accounted for 29% and 26% of the variance in FV scores, respectively (P < .001 for each). Together, they accounted for 36% of variance observed.
Biallelic USH2A variants were associated with a large range of FV, yet similar in ARRP and USH2, despite hearing loss in USH2. The modified VALVVFQ-48 we evaluated is not ideal for detecting the impact of USH2A-associated retinal degenerations on activities of daily living.
描述功能性视力（FV），并在携带双等位 USH2A 变异的患者中，在基线时调查 FV 与视力（VA）和视野（V）之间的关系。
多中心、国际、横断面研究。
在携带双等位致病 USH2A 变异的个体中，根据听力损失病史和听力学检查，临床诊断为 2 型 Usher 综合征（USH2）或常染色体隐性非综合征性视网膜色素变性（ARRP）。年龄≥ 18 岁的参与者采用口头方式完成 VALVVFQ-48 量表评估。双眼均进行视力测量，研究眼（VA 较好）采用静态视野检查来确定 V。FV 评分采用 Rasch 分析进行计算。
121 名参与者（76 名 USH2，45 名 ARRP）的中位年龄为 41 岁（范围：19-80 岁），54%为女性。FV 评分从-2.0 到 7.6 对数单位（中位数[四分位数范围（IQR）]：2.8 [1.5-3.8]）。ARRP 和 USH2 患者的 FV 评分相似，未调整年龄、VA、疾病持续时间和 V 时，两者的评分分别为[均值（95%置信区间）：2.8（2.3-3.4）和 2.7（2.3-3.2）]；调整后两者的评分分别为[均值（95%置信区间）：2.5（2.1-3.0）和 2.9（2.6-3.3）]；P =.24]。VA 和 V 分别占 FV 评分变异的 29%和 26%（P <.001）。两者共同占观察到的变异的 36%。
双等位 USH2A 变异与 FV 的较大范围相关，但在 ARRP 和 USH2 中相似，尽管 USH2 存在听力损失。我们评估的改良 VALVVFQ-48 对于检测 USH2A 相关视网膜变性对日常生活活动的影响并不理想。
