Familial drusen

Orpha code: 75376OMIM code: 126700

Definition

A rare, genetic macular dystrophy disorder characterized by the presence of small yellow-white accumulations of extracellular material under the retinal pigment epithelium in the ocular posterior pole, and affecting multiple members of a family. The disease has a variable clinical presentation ranging from asymptomatic patients to progressive loss of vision and scotomas, possibly associated with subfoveal choroidal neovascularization, extensive pigmentary changes, geographic atrophy and/or subretinal hemorrhage.

Disease data
Classification

Disease

Synonyms
DHRD
DHRD
Dominujące druzy tarczy nerwu wzrokowego
Dominujące promieniowe druzy tarczy neru wzrokowego
Dystrofia plamki typu "plastra miodu" Doyne'a
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
ORPHA code
75376
OMIM code
126700
ICD10 code
H35.5
ICD11 code
-

No additional description.

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