Department of Ophthalmology, Örebro University Hospital, Örebro, Sweden.
Department of Ophthalmology, Helsinki University Hospital, Helsinki, Finland.
Acta Ophthalmol. 2024 Sep;102(6):714-719. doi: 10.1111/aos.16671. Epub 2024 Mar 25.
To examine age-related macular degeneration (AMD) and retinal pigment epithelium (RPE)-Bruch's membrane (BrM) complex volume associations in monozygotic twin pairs.
In this study, 106 elderly twins (53 twin pairs) from the Finnish Twin Cohort study were recruited. Each participant underwent dilated 35-degree digital colour fundus photography (CFP), and spectral domain optical coherence tomography (OCT) and replied to a structured study questionnaire. The CFPs were graded according to the Age-Related Eye Disease Study (AREDS) classification. The OCT images were segmented and volumetric data of the RPE-BrM complex volume was calculated with the Orion™ software. The worse eye according to AREDS classification was used for the analysis.
Twenty-nine (55%) of the twin pairs were discordant with regard to AREDS classification. Fourteen (26%) pairs were discordant with one twin participant having AMD (AREDS 2-4) and the other being unaffected (AREDS 1). Four (8%) pairs had one twin participant with intermediate or late AMD (AREDS 3-4) versus the other being unaffected (AREDS 1). The within-pair polychoric correlation for AREDS was 0.605 (95% confidence interval 0.418-0.792). In multivariate analysis intermediate and late AMD as well as age associated with RPE-BrM complex volume. RPE-BrM complex volume showed a within twin pair correlation, r = 0.430 (95% confidence interval 0.172-0.688, p < 0.01).
A substantial proportion of monozygotic twin pairs are discordant with regard to age-related macular degeneration phenotype. RPE-BrM complex volume associated with age and intermediate and late AMD.
研究同卵双胞胎中年龄相关性黄斑变性（AMD）和视网膜色素上皮（RPE）-Bruch 膜（BrM）复合体体积的相关性。
本研究纳入了来自芬兰双胞胎队列研究的 106 对老年双胞胎（53 对双胞胎）。每位参与者均接受了散瞳 35 度数字眼底彩色照相（CFP）和谱域光相干断层扫描（OCT）检查，并回答了一份结构化的研究问卷。CFP 根据年龄相关性眼病研究（AREDS）分类进行分级。OCT 图像进行分割，并使用 Orion™软件计算 RPE-BrM 复合体体积的容积数据。根据 AREDS 分类，使用较差眼进行分析。
29 对（55%）双胞胎在 AREDS 分类方面存在不一致。14 对（26%）双胞胎中，一只眼睛患有 AMD（AREDS 2-4），另一只眼睛未受影响（AREDS 1）。4 对（8%）双胞胎中，一只眼睛患有中期或晚期 AMD（AREDS 3-4），另一只眼睛未受影响（AREDS 1）。AREDS 的个体内多质相关系数为 0.605（95%置信区间 0.418-0.792）。在多变量分析中，中期和晚期 AMD 以及年龄与 RPE-BrM 复合体体积相关。RPE-BrM 复合体体积在双胞胎之间存在相关性，r=0.430（95%置信区间 0.172-0.688，p<0.01）。
相当一部分同卵双胞胎在年龄相关性黄斑变性表型方面存在不一致。RPE-BrM 复合体体积与年龄以及中期和晚期 AMD 相关。
