Age-related macular degeneration (AMD) is caused by a number of genetic and environmental factors. Genome-wide association studies (GWAS) have identified have previously uncovered genetic factors linked to AMD risk. These studies involve scanning the entire human genome for genetic differences between people with AMD and matched controls. However, the presence of these genetic variants only increases one's risk of developing an advanced form of the disease in the future

An illustration showing a single nucleotide polymorphism - or SNP.

Single nucleotide polymorphisms (SNPs)

Most forms of macular degeneration are not linked to any single genetic mutation. Instead, susceptibility to age-related macular degeneration (AMD) is scattered over a number of small irregularities of genes called single nucleotide polymorphisms (SNPs). 

SNPs may be inherited or arise spontaneously, and their impact is tempered by other factors, such as age, overall health and nutrition, and exposure to cigarette smoke, sunlight, and other toxins.

Sequencing photo showing the order of the DNA's base structures.
Standout Genes

Complement Genes

Complement is an arm of the immune system that attacks invading bacteria. It is a series of proteins that recognize the bacteria as foreign, then initiate a cascade of events that pokes holes in bacterial membranes and recruits white blood cells to kill them.

Complement can sometimes inappropriately target our own cells, including those in the retina. Among the complement genes, complement factor H confers the greatest AMD risk.

Several DNA molecules. A section of one is highlighted in red.
Standout Genes


While ARMS2/HTRA is the subject of intensive research, the role of these genes in AMD is not yet understood.