What is Doyne Honeycomb dystrophy?
Doyne honeycomb dystrophy (pronounced doy-ne) is a rare inherited retinal dystrophy. Most cases are caused by a mutation or mistake on a single gene called EFEMP1. This causes the gene to ‘fold’ a protein wrongly, and stops it breaking down as it should. The protein then builds up to create ‘drusen’ inside the eye tissue and stops nutrients getting from blood vessels to the light-sensing cells that need them. As the cells waste and die, sight is lost. People gradually lose their central vision, although peripheral (side) vision is not affected. Some people have more rapid sight loss caused by new blood vessels growing behind the macula.
As doyne honeycomb dystrophy is an autosomal dominant condition, it means if one parent has it, a child has a 50 per cent chance of also developing the condition. It is equally common in men and women.
Unfortunately there is currently no treatment for doyne honeycomb dystrophy.
Further information about doyne honeycomb dystrophy can be found on the Macular Society website.
