Genetic Breakthrough in Common Eye Problem

Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss in the developed world. New research finds a genetic defect that could be involved with this disease. The discovery also helps researchers understand the true complexity of this disease.

Researchers collected blood samples from 402 people with AMD and 429 healthy individuals. The DNA was examined for variations in genes that code for proteins called fibulins. Researchers found seven of the 402 AMD patients had a change in one gene that none of the healthy individuals had.

This discovery by the researchers may only affect 2 percent of the patients with AMD, but researchers still feel this is an important finding. Specialists say fifteen years ago, they believed there would be a single gene that would be responsible for a substantial percentage of AMD. However recent research suggests that in reality a significant genetic cause of AMD may only affect 2 percent of the total.

Researchers say the next step is to produce cell cultures and animal models that have the mutations identified in the study.