McGovern Medical School at the University of Texas Health Science Center, Houston, Texas.
Loyola University Chicago Stritch School of Medicine, Maywood, Illinois.
Retina. 2022 Jul 1;42(7):1311-1318. doi: 10.1097/IAE.0000000000003460.
Soft drusen and subretinal drusenoid deposits (SDDs) characterize two pathways to advanced age-related macular degeneration (AMD), with distinct genetic risks, serum risks, and associated systemic diseases.
One hundred and twenty-six subjects with AMD were classified as SDD (with or without soft drusen) or non-SDD (drusen only) by retinal imaging, with serum risks, genetic testing, and histories of cardiovascular disease (CVD) and stroke.
There were 62 subjects with SDD and 64 non-SDD subjects, of whom 51 had CVD or stroke. SDD correlated significantly with lower mean serum high-density lipoprotein (61 ± 18 vs. 69 ± 22 mg/dL, P = 0.038, t-test), CVD and stroke (34 of 51 SDD, P = 0.001, chi square), ARMS2 risk allele (P = 0.019, chi square), but not with CFH risk allele (P = 0.66). Non-SDD (drusen only) correlated/trended with APOE2 (P = 0.032) and CETP (P = 0.072) risk alleles (chi square). Multivariate independent risks for SDD were CVD and stroke (P = 0.008) and ARMS2 homozygous risk (P = 0.038).
Subjects with subretinal drusenoid deposits and non-SDD subjects have distinct systemic associations and serum and genetic risks. Subretinal drusenoid deposits are associated with CVD and stroke, ARMS2 risk, and lower high-density lipoprotein; non-SDDs are associated with higher high-density lipoprotein, CFH risk, and two lipid risk genes. These and other distinct associations suggest that these lesions are markers for distinct diseases.
软性玻璃膜疣和视网膜下玻璃膜疣样沉积物（SDD）是两种与年龄相关的黄斑变性（AMD）进展相关的途径，具有不同的遗传风险、血清风险和相关的系统性疾病。
通过视网膜成像将 126 名 AMD 患者分为 SDD（有或无软性玻璃膜疣）或非 SDD（仅玻璃膜疣），并记录血清风险、基因检测以及心血管疾病（CVD）和中风病史。
有 62 名患者为 SDD，64 名患者为非 SDD，其中 51 名患者有 CVD 或中风。SDD 与较低的平均血清高密度脂蛋白（61±18 与 69±22mg/dL，P=0.038，t 检验）、CVD 和中风（34 名 SDD 患者，P=0.001，卡方检验）、ARMS2 风险等位基因（P=0.019，卡方检验）显著相关，但与 CFH 风险等位基因不相关（P=0.66）。非 SDD（仅玻璃膜疣）与 APOE2（P=0.032）和 CETP（P=0.072）风险等位基因呈相关/趋势性（卡方检验）。SDD 的多变量独立风险因素为 CVD 和中风（P=0.008）以及 ARMS2 纯合风险（P=0.038）。
视网膜下玻璃膜疣样沉积物和非 SDD 患者具有明显不同的系统性关联和血清及遗传风险。视网膜下玻璃膜疣样沉积物与 CVD 和中风、ARMS2 风险以及较低的高密度脂蛋白相关；而非 SDD 与较高的高密度脂蛋白、CFH 风险以及两种脂质风险基因相关。这些和其他不同的关联表明，这些病变是不同疾病的标志物。
