Familial drusen
ORPHA:75376· ICD-10 H35.5
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adult