Macular Degeneration -- Is It in Your Genes?

Among the things researchers have learned about age-related macular degeneration, one is that there’s a connection between genetics and the disease. Researchers may have found a drug that can slow the beginning of AMD in people, like me, with a genetic predisposition.

A potential option for those with a genetic predisposition to AMD

The drug called pegcetacoplan (commonly known as Empaveli®) was tested on 3 groups. A phase 2 clinical trial of 167 patients ran for one year. The first group received the drug every month, the second received it every other month, and the third group received a placebo. The placebo group received a sham injection. All patients received monthly scans to chart any potential changes.¹

What researchers know so far

According to a report in JAMA Opthalmology, the relative risk of progression at 12 months was 0.61 in the monthly group and 0.74 in every other month group. Progress of AMD in the untreated group was the same as in any untreated population.¹

“Eyes receiving intravitreal pegcetacoplan had lower rates of progression… compared with controls, suggesting a potential role for pegcetacoplan therapy earlier in the progression of AMD,” according to the authors of the article.¹

It will be some time before pegcetacoplan is available outside a clinical trial setting. Approval by the Food and Drug Administration can take months, if not years, with at least one more clinical trial. Once again, the drug will be tested for safety and efficacy, the size of the dose, and any interactions with other drugs or its effects on patients with various diseases.

My genetic link to AMD

One of the things I have learned in the 2 years since my diagnosis is how little I knew about my genetic heritage. I knew that both grandparents died of heart disease and that my father was an alcoholic and congenitally deaf in one ear.

I did not know that my half-sister and I developed AMD at about the same age. That was because I did not know her. I learned it from one of her children.

My experience is not uncommon. I seem to read or hear about people finding lost relatives at least once a week. Many adopted children will have no clue about the genetic heritage of their parents.

Reducing your risk of AMD

We know that there are things that can be done to reduce the risk of AMD until drugs like percetacoplan are available. For those of us with AMD and grandchildren, we can stress the importance of the basics:²

Get annual eye checkups. I just met a woman whose husband was diagnosed with AMD in his mid-40s. It was picked up during his regular visit to his eye doctor.

Do not smoke, or stop if you do. Oh, how I wish I had not started.

Eat a healthy, vegetable and fruit-heavy diet.

Exercise.

Talk about your diagnosis. The more people who know about AMD, the more likely they are to follow these simple steps.