Doyne honeycomb retinaldystrophy (DHRD); malattia leventinese (MLVT)

Genetics

• autosomal dominant disease
• associated with defects in EFEMP1 gene

Clinical manifestations

• yellow-white deposits known as drusen that accumulate beneath retinal pigment epithelium

More general terms

• genetic disease of the eye

Database

• OMIM: https://mirror.omim.org/entry/126600