Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

Sequenom

Status

Completed

Conditions

Age-related Macular Degeneration

Treatments

Device: RetnaGene AMD LDT

Study type

Observational

Funder types

Industry

Identifiers

NCT01650948

SQNM-AMD-106

Details and patient eligibility

About

Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).

Full description

This study seeks to test individuals who have already progressed to various forms of AMD to evaluate correlations between genetic markers and particular features of AMD including geographic atrophy and pigment epithelial detachments. We hypothesize that patients with more aggressive forms of AMD will have a higher genetic burden contributed by markers in ARMS 2, Complement Factor H (CFH), Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), or other genetic polymorphisms associated with CNV.

Enrollment

100 patients

Sex

All

Ages

50+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Subject is male or female 50 years of age and older
Subject provides a signed and dated informed consent
Subject agrees to provide two buccal swabs in accordance with this protocol
Diagnosis of CNV secondary to AMD in at least one eye

Exclusion criteria

Previous sample donation under this protocol
Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 50.
Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate imaging of the posterior segment.