Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen)

In these conditions, drusen are present in childhood, but patients are asymptomatic, with good vision, until their 40s or 50s. Drusen are seen at the macula, around the edge of the optic nerve and/or nasal to the disc, in a radiating pattern (in particular, temporal to macula, as in Figs. 18.1, 18.2, 18.3, 18.4 and 18.5). The periphery is usually spared. Drusen increase in size and number with age. Peripapillary drusen are a characteristic finding. Visual loss later in life is due to pigment hyperplasia, geographic atrophy, and choroidal neovascular membrane (Figs. 18.6 and 18.7). Variability in the clinical picture is common within families.