Familial drusen

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Synonyms: DHRD | Dominant drusen | Dominant radial drusen | Doyne honeycomb retinal dystrophy | Malattia leventinese

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Familial drusen?

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