MACULAR DISEASES WE STUDY
What is Macular Degeneration
Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss among the elderly population. It can affect quality of life and daily activities, and may lead to loss of independence. The cause is multi-factorial. We found that both environmental modifiable factors, like smoking and nutrition, as well as genetic factors, contribute to the development and its progression.
Our research found that nutrients called lutein and zeaxanthin, found in dark, green, leafy vegetables are beneficial, omega-3 fatty acids and fish can be helpful, and there are factors that increase risk, like dietary trans fats, abdominal adiposity, higher body mass index, and smoking.
Several genes are involved in increasing or decreasing your risk of developing this disease. Our team discovered many of the genes associated with AMD, most notably, the strongest genetic risk factors that tend to increase risk in families. We have also developed models that predict likelihood of progression to more advanced forms of the disease over time. Results of our research have been directly translated to treatments being tested in clinical trials.
At the current time, gene testing is not recommended routinely, since treatments are not yet dependent on knowing this information. However, this landscape of knowledge is changing, and precision medicine, or treatments based on your genes, is on the horizon.
We do gene testing in our research studies, and we discovered several of the known genes related to AMD, including those that have high impact and cause the disease to occur at an earlier age.
Juvenile Onset Macular Degenerations
These diseases include Stargardt disease and Best disease, and a few others. Genetic mutations have been identified that explain a large part of the development of these diseases. However, more information about the progression of the diseases and the variability of severity is needed which is being explored. For some individuals, gene therapy might be possible in the near future.
These are diseases that resemble AMD in some ways, but also have distinct differences in their appearance, age of onset and progression. Our research includes several individuals and families with these patterns of macular disease.