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Doyne honeycomb retinal dystrophy

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description 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.
Uniprot Description Autosomal dominant disease characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium.
Disease Ontology Description A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.
Mondo Term and Equivalent IDs
MONDO:0007471:  Doyne honeycomb retinal dystrophy
GARD:0001912: 
Orphanet:75376: 
SCTID:193411004: 
UMLS:C1832174: 
UMLS:C1852020: 
UMLS:CN205694: