Blind World Magazine

Raised hopes after blindness breakthrough.
Monday, March 6, 2006.

Most cases of blindness are the result of just two genes, a new study has revealed.

Experts from the Columbia university medical centre have discovered that the genes, Factor H and Factor B, are the key factors in the development of almost three out of four cases of age-related macular degeneration (AMD).

AMD is the cause of blindness in millions of elderly people around the world and involves a progressive loss of central vision due to the deterioration of the macula the part of the retina responsible for fine vision.

Factor H is responsible for controlling the levels of a protein that shuts down an immune response to infection in the eye after its elimination.

Those who have a variant of Factor H are less able to control such inflammation, which can cause the onset of AMD later in life.

Factor B appears to have the opposite role and may act as an inhibitor.

Scientists believe this implies that a protective variant of Factor B may be able to counter the effects of a risk-increasing Factor H gene.

"I am not aware of any other complex disorder where nearly 75 per cent of genetic causality has been identified.," lead researcher Dr Rando Allikmets said.

"These findings are significant because they absolutely confirm the roles of these two genes and, consequently, the central role of a specific immune response pathway, in the development of AMD.

"In just a few short years, we've gone from knowing very little about what causes AMD to knowing quite a lot. We now have clear targets for early therapeutic intervention."

End of article.

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