This 29YO male presented with a 1-month history of decreased vision in his left eye. Vision was 20/20 OD and counting fingers OS.
Pseudocolor SLO imaging shows extensive mixed and confluent drusen extending throughout the posterior pole in both eyes. A radiating linear pattern of fine drusen is present in each distal temporal macula. OCT scanning shows drusen indenting the overlying retina, extending into the outer nuclear layer and, in some places, up to the outer plexiform layer. Macular neovascularization (MNV) is present in the left fovea.
Fundus autofluorescence (FAF) shows macular hyper-FAF with surrounding relative hypo-FAF. Retro-Mode imaging reveals a dramatic, almost 3-dimensional appearance of depressions and mounds resembling the surface of the moon. Anti-VEGF therapy was started for the left eye.
Learning Points:
Doyne’s, also known as dominantly inherited radial basal laminar drusen or Malattia Leventinese, is a rare macular disorder caused by a mutation in the EFEMP1 gene on chromosome 2p16, although we have observed similar phenotypes in the absence of genetic testing. The EFEMP1 protein is a member of the fibulin family of extracellular matrix glycoproteins. The defective protein creates an abnormally thickened RPE basement membrane. Centrally large, nodular and confluent drusen develop, along with a temporal radiating pattern of smaller cuticular drusen. Later, there may be variable amounts of RPE hyperplasia and fibrous metaplasia. MNV may also occur.
Fundus autofluorescence (FAF) usually shows hypo-FAF in age-related drusen. The lesions in Doyne’s, as in this patient, usually show hyper-FAF, likely from unmasking of the RPE by overlying outer retinal thinning.
