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 (radial pattern 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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H02110 Doyne honeycomb retinal dystrophy
