Doyne honeycomb retinal dystrophy

Print

Disease Overview

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized by small, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium (the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies. The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner.[4956][4957][4958]


Synonyms

  • DHRD
  • Doyne honeycomb degeneration of retina
  • DHD

For more information, visit GARD.

National Organization for Rare Disorders