Doyne honeycomb retinal dystrophy

Malattia leventinese (ML) or Doyne honeycomb retinal dystrophy (DHRD) is an autosomal dominant disorder characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium. It is usually detected in early adult life and rarely in childhood-onset cases. Based on different patterns of drusen (radia patternl in ML or honeycomb pattern in DHRD) and other phenotypic variability, ML and DHRD were considered separate entities until 1999 when a single mutation in the gene EFEMP1 was found to be responsible for both conditions.