Genetic Assessment of Early to Late Macular Degeneration Study

Genetic Assessment of Early to Late macuLar dEgeneration studY 2

The purpose of this study is to determine if polymorphisms at rs11200638 on HTRA1 and rs1061170 on CFH are associated with an accelerated progression to advanced AMD (wet AMD or GA) in patients with early AMD (soft confluent drusen>120 microns ) in the study eye, and with either early AMD or advanced AMD in the non-study eye.

Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world. To date, two major polymorphisms on the HTRA1 and CFH genes have been associated with AMD. Progression and vision loss need to be followed and treated promptly in order to preserve vision. This study will provide more information on the genetics of disease progression and may lead to future guidelines for patient follow-up and treatment.

This study consists of a blood draw and observation of eye conditions. Consented, enrolled patients will come in every four months as per standard of care. At each visit, visual acuity measurement, slit lamp exam, indirect ophthalmoscopy, fundus photos, and spectral domain optical coherence tomography will be performed. Every 8 months, or per standard of care, fluoroscein angiography will be performed. DNA extraction and genotyping will be performed, and correlations between HTRA1 and CFH genotypes and the progression to bilateral advanced AMD will be analyzed.

Inclusion Criteria:

• Subjects will be eligible if the following criteria are met:
• Ability to provide written informed consent and comply with study assessments for the full duration of the study
• Age > 45 years
• Disease related considerations
• Subjects with a diagnosis of advanced AMD in one eye (either CNV or geographic atrophy) and soft confluent drusen in the study eye OR subjects with bilateral large soft drusen.

Exclusion Criteria:

• Subjects with any other progressive retinal disease that may impair the physician's ability to assess the severity of AMD