Age Related Macular Degeneration (AMD) is the leading cause of blindness in North America. This condition causes a progressive loss of central vision, the part of your vision that allows you to read, drive and see images in sharp detail directly in front of you. The wet form of AMD is characterized by the growth and leakage of small blood vessels into the choroid layer of the eye, or the back of the eye. These leaking blood vessels disrupt the structure and function of the eye, causing loss of vision, particularly the sharp vision created by the macula area of the eye. Currently, the best treatment for wet AMD is a series of injections of an anti-vascular endothelial growth factor (anti-VEGF) drug, ranibizumab (Lucentis). The clinical response to treatment is varied. Approximately 70% of patients see a moderate vision gain (3-line gain on a visual acuity chart), but there are 30% who do not see a similar improvement in vision. There is no way to identify those patients who will respond with significant vision gain versus those who will not experience moderate vision gain. Recent research into AMD has demonstrated that genetic mutations are proving to be key risk factors for patients developing wet AMD, with up to 80% of wet AMD cases explained by inherited genetic variations. Scientists have theorized that there may be a genetic difference between those patients who see significant responses to treatment and those who do not. The investigators will be testing participant's genetic profile using the Macula Risk test and following their progress through the standard treatment for wet AMD over the course of this study. This study aims to demonstrate the association between known genetic variations and patient responses to treatment.

NCT01363570

Conditions

1. Age Related Macular Degeneration

Interventions

1. Drug: Ranibizumab

MeSH:Macular Degeneration

Mean change in visual acuity according to individual mutations at the CFH haplotypes/C3 rs2230199 marker/ARMS2 rs10490924 marker and mt A4917G marker, calculated using the Macula Risk findings and visual acuity results as determined using ETDRS visual screening.

The purpose of this study is to determine whether common genetic polymorphisms that have been verified to be related to age-related macular degeneration (AMD) in some populations are also associated with AMD in Turkish population

NCT02248324

Conditions

1. Age-related Macular Degeneration

MeSH:Macular Degeneration

The gen variants mostly studied in relation to AMD are CFH (rs1061170 and rs1410996), LOC387715/ARMS-2 (A69S /rs10490924), HTRA-1 (rs11200638), C3 (R102G/ rs2230199), C2 E318D (rs9332739), and CFB R32Q (rs641153).

In the introduced projects study, the relationship of eight different gen polymorphisms (CFH rs1061170 and rs1410996, LOC387715 / ARMS2 gene rs10490924, C2 gene rs9332739, CFB gene rs641153, CFI rs10033900 , HTRA-1 gene rs11200638, C3 rs2230199) will be studied in 2800 patients with high risk intermediate and late stage AMD and 2200 age-matched control subjects.

Purpose: To examine the genotypes associated with the peripheral retinal phenotypic features in patients with age-related macular degeneration documented with wide-field imaging. Design: Clinic-based case series study in Croatia. Participants: 160 patients >50 years of age known to have early or advanced AMD and 150 subjects >50 years of age without known AMD (controls) Methods: Both groups of patients were examined with ophthalmoscopy and OCT to confirm their classification. Posterior and peripheral fundus features were documented with Optos wide-field imaging (Optos P200MA, Optos Plc, Dunfermline, Scotland) and graded. DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.

NCT03492853

Conditions

1. Peripheral Retinal Degenerations, Age Related Macular Degeneration Polymorphisms

Interventions

1. Genetic: DNA extraction and sequencing

MeSH:Macular Degeneration Retinal Degeneration

HPO:Retinal atrophy Retinal degeneration

DNA was extracted from blood samples and gene polymorphisms were evaluated for complement factor H (CFH) rs1061170 and rs1410996, age-related maculopathy susceptibility (ARMS2) rs10490924, high temperature requirement factor A1 (HtrA1) rs11200638, complement factor B (CFB) rs4151667 and rs641153, complement factor 2 (C2) rs9332739 and rs547154 and complement factor 3 (C3) rs2230199.