Dominant Drusen

by Dan Roberts
(Updated May 2010)
Dominant Drusen is an inherited autosomal dominant condition that presents with small round white retinal spots (drusen) that eventually form into a honeycomb pattern in the area of the optic disc and macula. Vision loss is usually slow unless neovascularization (abnormal blood vessel growth and leakage) occurs.
Dominant drusen is also called Doyne honeycomb retinal dystrophy and Malattia Leventinese. Some researchers say that the two diseases are one in the same, but others differentiate them because of the somewhat dissimilar patterns formed by the drusen.
The condition imitates dry AMD symptomatically, but there is a genetic difference. Dominant drusen is thought to be caused by a single mutation in a gene called FBLN3 (aka EFEMP1), the gene responsible for the protein fibulin 3. (This study was reported by Tarttelin et al in 2001.) ARMD is caused by mutations in other genes (eg. fibulin5, RPGR, HEMICENTIN-1, and complement factor H), which also lead to drusen deposits. Genetic therapies, therefore, would be different for the two diseases.
Other therapies, however, such as drusen lasering (still experimental) and anti-angiogenic drug treatment for neovascularization (which can occur with either condition) would be the same. Nutritional supplements (eg. the AREDS formula) would probably be equally effective, since antioxidants and zinc can help slow the progression to the advanced wet stage.