Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

Sequenom

Status: Completed

Conditions: Choroidal Neovascularization; Age Related Macular Degeneration; Central Serous Chorioretinopathy

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT01880788

SCMM-AMD-107

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 152 patients

Sex: All

Ages: 30+ years old

Volunteers: No Healthy Volunteers

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

Trial design

152 participants in 3 patient groups

CNV secondary to CSC

CSC without CNV

CNV secondary to advanced AMD