Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

Sequenom, Inc.152 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

152

Conditions

Eligibility

Sex: ALLMin age: 30 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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 Exclusion Criteria: * 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 30. * 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

Locations (1)

Vitreous Retina Macula Consultants of New York

New York, New York, United States

Outcomes

Primary Outcomes

Total genetic burden

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.

Time frame: Baseline assessment

Data from ClinicalTrials.gov

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