What Is The Macula?

The macula is an oval-shaped yellow spot in the eye, located near the center of the retina, which is the layer of tissue light-sensitive located toward the back of the eye. The macula acts as protective sunglasses to the eye by absorbing harmful blue and ultraviolet light. and plays an important role in clear, detailed central vision. The macula is an essential component for healthy vision.

What Is Macula Risk Testing?

Macula risk is a proprietary DNA test used to determine the risk level of vision loss in patients who are diagnosed with age-related macular degeneration (AMD). AMD is a genetic eye condition that slowly destroys the macula. If left untreated, AMD can lead to severe vision loss. Studies show that roughly one in five patients is at high risk for vision loss due to AMD.

Macula risk testing identifies patients who have the highest risk for losing their vision from AMD. The test assesses AMD from early, intermediate, and advanced stages. The goal of Macula Risk testing is to identify at-risk patients as early as possible. Once AMD genes are identified, patients can begin a disease management plan to help preserve their vision as they age.

How Macula Risk Testing Works

Macula risk testing identifies several genetic markers that are strongly linked to genetic risks of AMD progression and subsequent vision loss. These genetic markers include single nucleotide polymorphisms (SNPs) and haplotypes. Tobacco smoking is also included in macula risk testing and evidence shows that smoking can contribute to the progression of AMD.

Macula risk testing categorizes patients into 5 groups labeled MR1 through MR5. Patients in the MR5 category are at very high risk for vision loss due to AMD. Patients who are at high risk for AMD progression are typically over the age of 65, score between MR3 and MR5, and have drusen present. Drusen are made of yellow or white extracellular material that is deposited under the retina.

Macula Risk Testing Procedure

Patients who are diagnosed with age-related macular degeneration (AMD) are eligible for macula risk testing. Macula risk testing can be obtained by a licensed eye care professional who collects the patient’s DNA sample via a simple cheek swab. The sample and test requisition paperwork are then mailed to the macula risk testing lab.

Within a few weeks, the testing lab returns the macula risk test result to the eye care professional. The testing lab also includes access to genetic counseling support as needed by the patient. Typically, the eye care professional and patient schedule a follow-up appointment to discuss the results and determine a treatment plan.

Preventing Macular Degeneration

Patients who receive early AMD risk diagnosis can begin a regimen aimed at preventing damage from age-related macular degeneration (AMD). High macula risk patients should undergo more frequent eye examinations to track the condition and health of the eyes. The patient should also receive ongoing AMD education to increase awareness of the condition. A doctor may recommend eye vitamin therapy and nutritional supplements to help prevent vision loss.