Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Ophthalmology. 2020 Nov;127(11):1539-1548. doi: 10.1016/j.ophtha.2020.03.040. Epub 2020 Apr 21.
To report the visual acuity measures from the macular telangiectasia type 2 (MacTel) registry and to investigate and describe phenotypic findings in eyes with substantial vision loss resulting from MacTel.
Cross-sectional multicenter study.
Participants in the MacTel Natural History Observation Registration Study.
Best-corrected visual acuity (BCVA) data, retinal imaging data, and clinical data were accessed from the MacTel Study databases in May 2019.
Frequency distribution of BCVA and its relationship to age; morphologic changes in eyes with very late disease stages, defined by a BCVA of 20/200 or worse; average retinal thickness of macular subfields on OCT; and dimensions of the area affected by MacTel (i.e., the MacTel area).
Best-corrected visual acuity was 20/50 or worse in 37.3% and 20/200 or worse in 3.8% of 4449 eyes of 2248 patients; 18.4% and 0.7% of all patients showed bilateral BCVA of 20/50 or worse and 20/200 or worse, respectively. Asymmetry between right and left eyes was present (median BCVA, 71 letters vs. 74 letters), a finding supported by more advanced morphologic changes in right eyes. Participant age correlated with BCVA, but the effect size was small. If a neovascularization or macular hole were present, bilateral occurrence was frequent (33% or 17%, respectively), and BCVA was better than 20/200 (79% or 78%, respectively) or 20/50 or better (26% or 13%, respectively). Eyes with advanced disease (BCVA, ≤20/200) showed the following characteristics: (1) atrophy of the foveal photoreceptor layer with or without associated subretinal fibrosis; (2) an affected area, termed MacTel area, limited to a horizontal diameter not exceeding the distance between the temporal optic disc margin and foveal center, and the vertical diameter not exceeding approximately 0.8 times this distance (exceptions were eyes with large active or inactive neovascular membranes); (3) reduced retinal thickness measures within the MacTel area; and (4) less frequent retinal greying and more frequent hyperpigmentations compared with eyes that have better BCVA.
Severe vision loss is rare in MacTel and is related to photoreceptor atrophy in most people. Results indicate disease asymmetry with slightly worse vision and more advanced disease manifestation in right eyes. MacTel-related neurodegeneration does not spread beyond the limits of the MacTel area.
报告黄斑毛细血管扩张症 2 型（MacTel）登记处的视力测量结果，并调查和描述因 MacTel 导致严重视力丧失的眼睛的表型发现。
横断面多中心研究。
MacTel 自然史观察登记研究的参与者。
2019 年 5 月从 MacTel 研究数据库中获取最佳矫正视力（BCVA）数据、视网膜成像数据和临床数据。
BCVA 的频率分布及其与年龄的关系；晚期疾病阶段（BCVA 为 20/200 或更差）眼睛的形态变化；OCT 黄斑区亚区的平均视网膜厚度；以及受 MacTel 影响的区域（即 MacTel 区域）的大小。
在 4449 只眼中，有 37.3%的眼 BCVA 为 20/50 或更差，3.8%的眼 BCVA 为 20/200 或更差；所有患者中有 18.4%和 0.7%的双眼 BCVA 分别为 20/50 或更差和 20/200 或更差。右眼和左眼之间存在不对称（中位数 BCVA，71 个字母对 74 个字母），这种发现得到了右眼更先进的形态变化的支持。参与者年龄与 BCVA 相关，但效应大小较小。如果存在新生血管或黄斑裂孔，双侧发生的频率较高（分别为 33%或 17%），BCVA 好于 20/200（分别为 79%或 78%）或 20/50 或更好（分别为 26%或 13%）。晚期疾病（BCVA，≤20/200）的眼睛具有以下特征：（1） 光感受器层萎缩，伴有或不伴有视网膜下纤维化；（2） 受影响的区域，称为 MacTel 区域，水平直径不超过颞侧视盘边缘和中心凹之间的距离，垂直直径不超过该距离的约 0.8 倍（例外情况是眼睛有大的活动性或非活动性新生血管膜）；（3） MacTel 区域内视网膜厚度测量值降低；（4） 与视力较好的眼睛相比，视网膜灰色化较少，色素沉着较多。
MacTel 导致的严重视力丧失很少见，且与大多数人的光感受器萎缩有关。结果表明疾病存在不对称性，右眼视力稍差，疾病表现更严重。MacTel 相关的神经退行性变不会超出 MacTel 区域的范围。
