Variants
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Basal laminar drusen

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Description

Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by Bok, 2002, Boon et al., 2008).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

89

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Genes

External Links

  • OMIM

    126700

  • Orphanet
  • HPO
  • Medgen

    C0730295

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