Familial drusen

Orpha code: 75376OMIM code: 126700

Definicja

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
Klasyfikacja

Disease

Synonimy
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
Kod ORPHA
75376
Kod OMIM
126700
Kod ICD10
H35.5
Kod ICD11
-

No additional description.

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