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ORPHA:75376· ICD-10 H35.5· Familial drusen

Визначення(English summary)

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.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
Adult