This 66YO female presented with acute vision loss of her right eye. There was no family history of eye disease. Extensive variably sized drusen were noted in both maculae, with subretinal blood from macular neovascularization (MNV) in her right eye.
OCT scanning shows variably sized and peaked drusen and subretinal hyperreflective material (SHRM) reminiscent of Doyne’s honeycomb macular dystrophy.
Learning Points:
Doyne’s honeycomb macular dystrophy, also known as dominantly inherited radial basal laminar drusen or Malattia Levantinese, 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 are noted, along with a temporal radiating pattern of smaller cuticular drusen. Later, there may be variable amounts of RPE hyperplasia and fibrous metaplasia. MNV, as in this case, may also develop.
