Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Am J Ophthalmol. 2013 Feb;155(2):260-269.e2. doi: 10.1016/j.ajo.2012.08.011. Epub 2012 Oct 27.
To survey the prevalence of reticular pseudodrusen in late age-related macular degeneration (AMD) using multiple imaging methods, and to investigate the association between reticular pseudodrusen and polymorphisms in complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genes.
Retrospective case series.
This study included 216 consecutive patients with late AMD (typical AMD, polypoidal choroidal vasculopathy [PCV], retinal angiomatous proliferation [RAP], or geographic atrophy). Eyes were assessed for reticular pseudodrusen using the blue channel of color fundus photography, infrared reflectance, fundus autofluorescence, and spectral-domain optical coherence tomography. The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and ARMS2 A69S rs10490924) were genotyped.
Forty-nine eyes of 30 patients had a reticular pattern in ≥2 imaging modalities and were diagnosed with reticular pseudodrusen. Of these, 16 had bilateral late AMD, whereas 32 of 186 patients without reticular pseudodrusen had bilateral late AMD (P < .001). The prevalence of reticular pseudodrusen was 83% in RAP, 50% in geographic atrophy, 9% in typical AMD, and 2% in PCV. The frequency of the T allele in ARMS2 A69S in patients with and without reticular pseudodrusen was 78.6% and 59.9%, respectively (P=.007).
The prevalence of reticular pseudodrusen was low in PCV cases. About 50% of patients with reticular pseudodrusen had bilateral late AMD. The connection of ARMS2 risk allele and reticular pseudodrusen was confirmed in a Japanese population.
使用多种成像方法调查晚期年龄相关性黄斑变性（AMD）中网状假性drusen 的患病率，并研究网状假性drusen 与补体因子 H（CFH）和年龄相关性黄斑病变易感性 2（ARMS2）基因多态性之间的关系。
回顾性病例系列。
本研究纳入了 216 例连续的晚期 AMD 患者（典型 AMD、息肉样脉络膜血管病变[PCV]、视网膜血管性增殖[RAP]或地图状萎缩）。使用眼底彩色照相的蓝色通道、红外反射、眼底自发荧光和谱域光相干断层扫描评估眼睛的网状假性drusen。主要的 AMD 相关单核苷酸多态性（CFH Y402 rs1061170、CFH I62V rs800292 和 ARMS2 A69S rs10490924）进行基因分型。
30 例患者的 49 只眼在≥2 种成像方式中出现网状模式，被诊断为网状假性drusen。其中，16 只眼为双侧晚期 AMD，而 186 例无网状假性drusen 的患者中有 32 只眼为双侧晚期 AMD（P<.001）。RAP 中网状假性drusen 的患病率为 83%，地图状萎缩为 50%，典型 AMD 为 9%，PCV 为 2%。在有和无网状假性drusen 的患者中，ARMS2 A69S 的 T 等位基因的频率分别为 78.6%和 59.9%（P=.007）。
PCV 病例中网状假性drusen 的患病率较低。约 50%的网状假性drusen 患者存在双侧晚期 AMD。在日本人群中证实了 ARMS2 风险等位基因与网状假性drusen 的关联。
