Doyne honeycomb retinal dystrophy

MONDO:0007471

Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, 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.

Also known as: DHRD, Doyne honeycomb degeneration of retina, Doyne honeycomb retinal dystrophy, Malattia leventinese, dominant drusen, dominant radial drusen, DHD, drusen, radial, autosomal dominant

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