From the Centre for Eye Research Australia, East Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., D.G.H., M.B.M., T.L.E.); Department of Surgery (Ophthalmology), University of Melbourne, Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., T.L.E.); Royal Victorian Eye and Ear Hospital, East Melbourne (Z.L., L.N.A., F.O., M.L.H., J.-H.W., D.G.H., T.L.E.); Royal Melbourne Hospital (Z.L.).
From the Centre for Eye Research Australia, East Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., D.G.H., M.B.M., T.L.E.); Department of Surgery (Ophthalmology), University of Melbourne, Melbourne (Z.L., L.N.A., F.O., J.A., M.L.H., J.-H.W., T.L.E.); Royal Victorian Eye and Ear Hospital, East Melbourne (Z.L., L.N.A., F.O., M.L.H., J.-H.W., D.G.H., T.L.E.); Department of Optometry and Vision Sciences, the University of Melbourne (L.N.A., F.O.), Parkville.
Am J Ophthalmol. 2022 Mar;235:313-325. doi: 10.1016/j.ajo.2021.07.009. Epub 2021 Jul 18.
To evaluate anatomic and functional intereye symmetry among individuals with Bietti crystalline dystrophy (BCD) using clinical and multimodal imaging methods, with a focus on the number, area, and distribution of the characteristic retinal crystalline deposits.
Observational case series with prospective and retrospective data.
Setting: Multicenter.
Thirteen Australian and New Zealand participants (26 eyes) with confirmed biallelic CYP4V2 mutations and a characteristic BCD fundus appearance. Procedures and main outcome measures: Crystals visible on color fundus photography were manually counted. Crystals were superimposed on aligned multimodal fundus images. Spearman's correlation coefficients (ρ), intraclass correlation coefficients (ICCs), and Bland-Altman plots were used to quantify symmetry between eyes.
Fundus crystal area and count, and absent-autofluorescence (absent-AF) area.
Median participant age was 48 years (interquartile range: 40-60 years). Intereye symmetry was high for fundus crystal area (ρ = 1.00, 95% confidence interval [CI]: 1.00-1.00; ICC = 0.97, 95% CI: 0.88-0.99), fundus crystal count (ρ = 0.98, 95% CI: 0.92-1.00; ICC = 0.97, 95% CI: 0.89-0.99), and absent-AF area (ρ = 0.88, 95% CI: 0.53-0.98; ICC = 0.98, 95% CI: 0.90-0.99). Average foveal volume, foveal crystal count and area, average and central foveal thickness, best corrected visual acuity, and average macular and central foveal sensitivity were not highly correlated between eyes.
This study demonstrated strong intereye symmetry measured by fundus crystal area, fundus crystal number, and absent-AF area. This may influence the choice of outcome measures for future therapeutic trials for BCD and provides valuable clinical information for ophthalmologists involved in the care and counseling of patients with BCD.
使用临床和多模态成像方法评估双眼患有 Bietti 结晶性营养不良（BCD）的个体的解剖和功能对称性，重点关注特征性视网膜结晶沉积物的数量、面积和分布。
前瞻性和回顾性数据的观察性病例系列。
地点：多中心。
13 名澳大利亚和新西兰参与者（26 只眼），经证实存在双等位 CYP4V2 突变和典型的 BCD 眼底表现。
通过手动计数彩色眼底照相可见的晶体。将晶体叠加在对齐的多模态眼底图像上。使用 Spearman 相关系数（ρ）、组内相关系数（ICC）和 Bland-Altman 图来量化双眼之间的对称性。
眼底晶体面积和数量以及无自发荧光（无-AF）面积。
中位参与者年龄为 48 岁（四分位距：40-60 岁）。双眼的眼底晶体面积（ρ=1.00，95%置信区间[CI]：1.00-1.00；ICC=0.97，95%CI：0.88-0.99）、眼底晶体计数（ρ=0.98，95%CI：0.92-1.00；ICC=0.97，95%CI：0.89-0.99）和无-AF 面积（ρ=0.88，95%CI：0.53-0.98；ICC=0.98，95%CI：0.90-0.99）之间具有高度对称性。平均黄斑中心凹体积、黄斑中心凹晶体数量和面积、平均和中央黄斑中心凹厚度、最佳矫正视力以及平均黄斑和中央黄斑中心凹敏感度在双眼之间相关性不强。
本研究通过眼底晶体面积、眼底晶体数量和无-AF 面积测量，证实了双眼之间存在强烈的对称性。这可能会影响未来 BCD 治疗试验的结局指标选择，并为参与 BCD 患者护理和咨询的眼科医生提供有价值的临床信息。
