Clinical trial NCT01880788: Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD
Official title: 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).
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Age Related Macular Degeneration
Choroidal Neovascularization
Central Serous Chorioretinopathy
Keywords: Age Related Macular Degeneration
Choroidal Neovascularization
Central Serous Chorioretinopathy
Lead sponsor: Sequenom, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Vitreous -Retina- Macula Consultants of New York
First posted: 2013-06-19
Enrollment: 152
Sex: ALL
Minimum age (years): 30
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients seen for routine visits at the offices of Vitreous Retina Macula Consultants of New York.

Enrollment will include 150 subjects: 50 will be selected based on diagnosis of CNV secondary to CSC 50 will be selected based on diagnosis of CSC without neovascularization and 50 selected based on diagnosis of CNV secondary to advanced AMD.

Brief summary: 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Total genetic burden
timeFrame: Baseline assessment
Secondary outcomes:
Other outcomes:
Locations:
city: New York City
country: United States
facility: Vitreous Retina Macula Consultants of New York
state: New York
Study officials:
References: