Alternative Names
ARMD; Macular Degeneration; MD
Symptoms & Characteristics
Age-related macular degeneration (ARMD), also known as macular degeneration, is a disease of the eye. ARMD affects the macula, the part of the eye in the center of the retina that sees fine detail. ARMD causes damage to the macula, destroying sharp, central vision. Without central vision, a person cannot see objects clearly, recognize faces, and do tasks like reading and driving.
ARMD typically develops slowly over time so that some people may not even realize they have it. In some cases, people suffer rapid vision loss in both eyes. Routine, comprehensive eye exams can detect the early signs of ARMD before vision loss occurs.
Management & Treatment
There is currently no cure for ARMD. In some cases, treatment may help to slow disease progression.
How Common Is It?
Over 1.7 million Americans are believed to be affected with ARMD, and another 7 million are believed to have intermediate ARMD and be at risk for vision loss.
- ARMD is the most common cause of blindness in people age 65 or older.
Genetics & Inheritance
ARMD is most likely a multifactorial condition, which means it involves a combination of genetic, lifestyle and environmental factors.
- Some non-genetic factors that have been proposed to contribute to ARMD risk include older age, obesity and smoking.
ARMD has been broken down into types based on known genetic components. Researchers believe that there are a number of genes which either cause or cause susceptibility to ARMD. Not all the genetic components of ARMD are known or adequately established at this time.
Variations or mutations in the genes associated with types ARMD2, ARMD2, ARMD3, ARMD5, ARMD6, ARMD10, and ARMD11 have been found in some families.
Single nucleotide polymorphisms (SNPs) are small variations in a single "letter" of DNA that can be found throughout our entire genetic make-up. Some researchers have proposed that specific SNPs may influence the risk to develop ARMD in some people. SNPs have been found in the genes (or gene areas) associated with types ARMD1, ARMD4, ARMD7, ARMD8, and ARMD9.
- How these SNPs contribute to ARMD is unclear, and much of this research is considered preliminary at this point. Research is currently often limited to specific ethnic groups. Further research is needed to clearly establish associations.
Variations in three other genes: CX3CR1, ESR1, and MTTL1 (a mitochondrial gene) have also been linked to ARMD but are not currently classified as their own ARMD types.
Variations in four genes: CFB, C2, CFHR1 and CFHR have been associated with a reduced risk to develop ARMD in some studies.
A genetic consultation with a trained genetic professional may be beneficial in discussing the benefits and limitations of genetic testing as well as recurrence risk.
Genetic Testing
Clinical genetic testing for some types of ARMD (ARMD1 – ARMD8) is currently available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
Informational genetic testing for susceptibility to ARMD is available online (over the internet) as part of a whole genome scan. Whole genome scanning involves analyzing thousands of SNPs at once related to a number of different health conditions.
- Regarding most SNP testing, further research is needed to clearly establish associations. At this point, many genetic professionals do not consider this testing clinically useful or medically relevant, but for informational purposes only. ARMD is an interesting exception as some of these SNPs are considered well established in the scientific community and are already being offered and tested for by clinicians. Therefore, the classification of some of these SNPs may change in the near future. Go to the Tests tab to link to online providers, compare providers and read provider reviews.
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