Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD
| Status: | Completed |
|---|---|
| Conditions: | Cardiology, Ocular |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Ophthalmology |
| Healthy: | No |
| Age Range: | 30 - Any |
| Updated: | 4/21/2016 |
| Start Date: | November 2012 |
| End Date: | August 2015 |
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).
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.
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.
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.
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
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