Malattia leventinese

An hereditary form of macular degeneration that results in progressive and irreversible visual loss.

This disease is characterized by the appearance in early adulthood of small round white spots (drusen), particularly in the macula of the retina, which progress to form a honeycomb pattern.

Malattia leventinese is inherited in an autosomal dominant manner.

The disease is due to a single mutation (Arg345Trp) in FBLN3, the gene encoding the protein fibulin 3. (This gene is also called EFEMP1.) The condition was clinically first recognized and reported in 1899 by Robert Walter Doyne (1857-1916), an ophthalmologist in Oxford, England.

It is also known as Doyne honeycomb retinal dystrophy (DHRD) and as autosomal dominant radial drusen.