Evaluation of Genetic Variants in Patients With Type 1 Neovascularization (Sub-retinal Pigment Epithelium Neovascularization) Who Lack Typical Findings of Age Related Macular Degeneration (AMD) But Present With Findings More Consistent With Long-standing Central Serous Chorioretinopathy (CSC).
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 152
- 试验地点
- 1
- 主要终点
- Total genetic burden
研究概览
简要总结
The study will be designed as a case control evaluation to compare the genetic profiles of three groups of patients categorized according to diagnosis.
Group 1 - CNV secondary to CSC Group 2 - CSC without CNV Group 3 - CNV secondary to advanced AMD.
详细描述
To determine if patients presenting with type 1 neovascularization believed to be secondary to CSC are genetically distinct from typical CSC patients without neovascularization or patients presenting with choroidal neovascularization (CNV) secondary to advanced AMD. Disease associated markers detecting variants in ARMS 2, Complement Factor H (CFH) Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), VEGFA or other genetic polymorphisms associated with CNV will be evaluated to determine if the CSC neovascular group is genetically distinct from the CSC group without neovascularization or the advanced AMD group.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 30 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Caucasian
- •30 years and older (CSC)
- •50 years and older (Advanced AMD)
- •Genders Eligible for Study: Both
- •Completed Consent form
- •Diagnosis of choroidal neovascularization in at least one eye
排除标准
- •Patient age less than 30 years (CSC).
- •Patient age less than 50 years (AMD).
- •Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD and CSC such as high myopia, retinal dystrophies, retinal vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of
- •Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate fundus photography.
- •Missing informed consent
- •Previous sample donation under this protocol
结局指标
主要结局
Total genetic burden
时间窗: Baseline assessment
The identification of individual genetic markers or a quantitative measure of total genetic burden associated with CNV secondary to CSC vs. CSC vs. CNV secondary to advanced AMD as meaured by the commercially available RetnaGene AMD assay.
次要结局
未报告次要终点
研究者
K. Bailey Freund, MD
Clinical Associate Professor at NYU School of Medicine
Vitreous -Retina- Macula Consultants of New York