This 53YO female presented with these asymptomatic macular changes. She denied any family history of eye disease. Vision was 20/30 OD and 20/25 OS.
Optos color RG imaging shows extensive mixed drusen throughout the right posterior pole. The drusen hyper-autofluoresce.
OCT B-scan shows the sub-RPE drusen indenting and extending into the outer nuclear layer and up to the outer plexiform layer in some places. Similar findings were noted in her left eye (images not shown).
Learning Points:
Doynes, 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. 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, variable amounts of RPE hyperplasia and fibrous metaplasia may be present. Macular neovascularization 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.
