Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease
Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease
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DOI：
10.1167/iovs.10-6538
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发表时间：
2011-05-01
影响因子：
4.4
通讯作者：
Duncan, Jacque L.
中科院分区：
文献类型：
--
作者：
Chen, Yingming;Ratnam, Kavitha;Duncan, Jacque L.
目的。研究Stargardt病(STGD)患者黄斑锥体结构、眼底自发荧光(AF)和视功能之间的关系。方法。通过自适应光学扫描激光检眼镜 (AOSLO) 和谱域光学相干断层扫描，获得了 12 名 STGD 患者和 27 名年龄匹配的健康受试者的黄斑高分辨率图像。视网膜结构和房颤的测量与视觉功能相关，包括最佳矫正视力、色觉、动态和静态视野检查、眼底引导微视野检查和全视野视网膜电图检查。所有患者均完成ABCA4基因突变分析。结果。患者年龄为15至55岁，视力范围为20/25-20/320。所有患者均存在中央暗点，但三名患者的中央凹未受影响。最早的视锥细胞间距异常出现在均匀 AF、正常视觉功能和正常视网膜外层结构的区域。视盘附近的外视网膜结构和 AF 最正常。纵向研究表明，AF 逐渐增加，随后 AF 减少，并伴有视觉敏感性、视网膜外层和视锥细胞的丧失。在所研究的 12 名患者中，有 11 名患者的 ABCA4 基因中至少发现了一种致病突变； 12 名患者中有 1 名没有表现出导致疾病的 ABCA4 突变。结论。 AOSLO 成像显示异常眼底 AF 区域的锥体间距异常以及视功能下降。这些发现为疾病进展模型提供了支持，其中脂褐质积累导致 AF 均匀增加并伴有视锥细胞间距异常，随后 AF 异质性增加并伴有视锥细胞丢失，然后 AF 减少并伴有视锥细胞和 RPE 细胞死亡。 （ClinicalTrials.gov 编号，NCT00254605。）（Invest Ophthalmol Vis Sci. 2011；52：3281-3292）DOI：10.1167/iovs.10-6538
PURPOSE. To study the relationship between macular cone structure, fundus autofluorescence (AF), and visual function in patients with Stargardt disease (STGD).METHODS. High-resolution images of the macula were obtained with adaptive optics scanning laser ophthalmoscopy (AOSLO) and spectral domain optical coherence tomography in 12 patients with STGD and 27 age-matched healthy subjects. Measures of retinal structure and AF were correlated with visual function, including best-corrected visual acuity, color vision, kinetic and static perimetry, fundus-guided microperimetry, and full-field electroretinography. Mutation analysis of the ABCA4 gene was completed in all patients.RESULTS. Patients were 15 to 55 years old, and visual acuity ranged from 20/25-20/320. Central scotomas were present in all patients, although the fovea was spared in three patients. The earliest cone spacing abnormalities were observed in regions of homogeneous AF, normal visual function, and normal outer retinal structure. Outer retinal structure and AF were most normal near the optic disc. Longitudinal studies showed progressive increases in AF followed by reduced AF associated with losses of visual sensitivity, outer retinal layers, and cones. At least one disease-causing mutation in the ABCA4 gene was identified in 11 of 12 patients studied; 1 of 12 patients showed no disease-causing ABCA4 mutations.CONCLUSIONS. AOSLO imaging demonstrated abnormal cone spacing in regions of abnormal fundus AF and reduced visual function. These findings provide support for a model of disease progression in which lipofuscin accumulation results in homogeneously increased AF with cone spacing abnormalities, followed by heterogeneously increased AF with cone loss, then reduced AF with cone and RPE cell death. (ClinicalTrials.gov number, NCT00254605.) (Invest Ophthalmol Vis Sci. 2011;52:3281-3292) DOI:10.1167/iovs.10-6538