Gliem Martin, Müller Philipp L, Birtel Johannes, Hendig Doris, Holz Frank G, Charbel Issa Peter
Department of Ophthalmology, University of Bonn, Bonn, Germany 2Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.
Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine-Westphalia, University Hospital of the Ruhr University, of Bochum, Bad Oeynhausen, Germany.
Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3323-30. doi: 10.1167/iovs.16-19388.
To characterize atrophy of the outer retina and the retinal pigment epithelium in patients with pseudoxanthoma elasticum (PXE).
In this retrospective cross-sectional study, the frequency and phenotypic characteristics of manifest atrophy were investigated in 276 eyes of 139 patients using color fundus photography, fundus autofluorescence (AF) imaging, and spectral domain optical coherence tomography. Progression rates of atrophy were quantified in eyes with longitudinal AF recordings.
Atrophy was present in 90 eyes (32%; mean age, 60; range, 32-88 years). In 19 eyes (7%; mean age, 56; range, 37-77 years) atrophy occurred without any signs for an active or fibrotic choroidal neovascularization (CNV). The frequency of both, atrophy and CNV, increased with age. In those > 60 years of age, atrophy and/or CNV were almost universally present but varied considerably in severity. Eyes with emerging pure atrophy (n = 13, no signs of CNV) showed pattern dystrophy-like changes (100%), reticular pseudodrusen (82%), and reduced choroidal thickness. Advanced atrophy was multifocal, reached beyond the arcades, and was present nasal to the optic disc. The average expansion rate of atrophy was 3.3 ± 1.3 and 1.6 ± 1.1 mm2/year (mean ± SD), in those without or with signs for CNV, respectively.
Atrophy of the outer retina and the retinal pigment epithelium is a common finding in PXE patients characterized by early onset and fast progression with subsequent visual loss independent from CNV. This suggests that atrophy is the natural endpoint of Bruch's membrane disease. Phenotypic similarities with multifactorial geographic atrophy in age-related macular degeneration suggest common pathogenic pathways at the level of Bruch's membrane.
对弹性假黄瘤（PXE）患者的外层视网膜和视网膜色素上皮萎缩进行特征描述。
在这项回顾性横断面研究中，使用彩色眼底照相、眼底自发荧光（AF）成像和光谱域光学相干断层扫描，对139例患者的276只眼进行了明显萎缩的频率和表型特征研究。对有纵向AF记录的眼睛进行萎缩进展率的量化。
90只眼（32%）存在萎缩（平均年龄60岁；范围32 - 88岁）。19只眼（7%）出现萎缩，且无任何活动性或纤维化脉络膜新生血管（CNV）的迹象（平均年龄56岁；范围37 - 77岁）。萎缩和CNV的频率均随年龄增加。在年龄大于60岁的患者中，萎缩和/或CNV几乎普遍存在，但严重程度差异很大。出现单纯萎缩（n = 13，无CNV迹象）的眼睛表现出图案样营养不良改变（100%）、网状假性玻璃膜疣（82%）以及脉络膜厚度降低。晚期萎缩为多灶性，超出了血管弓范围，且位于视盘鼻侧。在无CNV迹象或有CNV迹象的患者中，萎缩的平均扩展率分别为3.3±1.3和1.6±1.1 mm²/年（平均值±标准差）。
外层视网膜和视网膜色素上皮萎缩在PXE患者中很常见，其特征为发病早、进展快，随后视力丧失且与CNV无关。这表明萎缩是Bruch膜疾病的自然终点。与年龄相关性黄斑变性中多因素地图样萎缩的表型相似性提示在Bruch膜水平存在共同的致病途径。
