This healthy asymptomatic 27YO female presented for a routine eye examination. Ocular family history was negative. Vision was 20/20 OU.
Color photography of her left eye shows extensive, larger, well-defined drusen throughout the central macula. These drusen show a rim of hyper-fundus autofluorescence (FAF) with a central hypo-FAF core. The temporal foveal hyperreflective drusen are confluent, indenting the overlying retina into the outer nuclear layer. Similar findings were noted in her right eye (not shown).
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 seen similar phenotypes with negative 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. Macular neovascularization may also occur.
Clues to the likely diagnosis of Doyne’s in our patient include extensive central, symmetrical drusen in a 27YO and pathognomonic drusen that indent the overlying retina on OCT. In addition, 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.
