Jaouni Tareq, Averbukh Edward, Burstyn-Cohen Tal, Grunin Michelle, Banin Eyal, Sharon Dror, Chowers Itay
Department of Ophthalmology, Hadassah–Hebrew University Medical Center, POB 12000, Jerusalem, Israel 91120.
Arch Ophthalmol. 2012 Aug;130(8):987-91. doi: 10.1001/archophthalmol.2012.1483.
To evaluate if adult-onset foveomacular vitelliform dystrophy (AOFVD) and butterfly-shaped pigment dystrophy (BSPD) are associated with risk single-nucleotide polymorphisms (SNPs) for age-related macular degeneration (AMD).
This was a tertiary referral center-based cross-sectional study including 35 consecutive patients with BSPD and AOFVD, 317 patients with AMD, and 159 unaffected individuals. Demographics, clinical information, and ophthalmic imaging studies were collected. Sequencing was performed for the peripherin/RDS and BEST1 genes, and genotyping was performed for SNPs in the genes for complement factor H (CFH) (rs1061170), HTRA1 (rs11200638), and complement component 3 (C3) (rs2231099).
Adult-onset foveomacular vitelliform dystrophy and BSPD were diagnosed in 24 (68.6%) and 11 (31.4%) of the 35 patients, respectively. The mean (SD) age of patients with pattern dystrophy (PD) was 75.3 (10) years and median visual acuity was 0.7. Pattern dystrophy was associated with the HTRA1 risk allele compared with unaffected individuals (odds ratio, 1.72; 95% CI, 1.11-2.66; P = .03). The HTRA1 SNP showed similar prevalence in patients with AMD and PD. The CFH risk allele was significantly less common in patients with PD compared with patients with AMD (odds ratio, 0.47; 95% CI, 0.28-0.76; P = .002). No mutations in peripherin/RDS or BEST1 were detected.
The AOFVD and BSPD phenotypes are associated with an HTRA1 risk SNP. These phenotypes often present in elderly individuals who do not carry peripherin/RDS gene mutations and are associated with retinal pigment epithelium alterations and increased risk for choroidal neovascularization. Further research is required to evaluate if AOFVD and BSPD phenotypes in aged individuals are associated with AMD.
评估成人期黄斑中心凹卵黄样营养不良（AOFVD）和蝶形色素性营养不良（BSPD）是否与年龄相关性黄斑变性（AMD）的风险单核苷酸多态性（SNP）相关。
这是一项基于三级转诊中心的横断面研究，纳入了35例连续的BSPD和AOFVD患者、317例AMD患者以及159例未受影响的个体。收集了人口统计学资料、临床信息和眼科影像学检查结果。对外周蛋白/RDS和BEST1基因进行测序，并对补体因子H（CFH）（rs1061170）、HTRA1（rs11200638）和补体成分3（C3）（rs2231099）基因中的SNP进行基因分型。
35例患者中，分别有24例（68.6%）和11例（31.4%）被诊断为成人期黄斑中心凹卵黄样营养不良和BSPD。图案样营养不良（PD）患者的平均（标准差）年龄为75.3（10）岁，中位视力为0.7。与未受影响的个体相比，图案样营养不良与HTRA1风险等位基因相关（优势比，1.72；95%可信区间，1.11 - 2.66；P = 0.03）。HTRA1 SNP在AMD患者和PD患者中的患病率相似。与AMD患者相比，PD患者中CFH风险等位基因的频率显著更低（优势比，0.47；95%可信区间，0.28 - 0.76；P = 0.002）。未检测到外周蛋白/RDS或BEST1的突变。
AOFVD和BSPD表型与HTRA1风险SNP相关。这些表型常见于不携带外周蛋白/RDS基因突变的老年人，与视网膜色素上皮改变以及脉络膜新生血管形成风险增加有关。需要进一步研究以评估老年个体中的AOFVD和BSPD表型是否与AMD相关。
