Basal laminar drusen

Synonyms: DRUSEN OF BRUCH MEMBRANE; DRUSEN, CUTICULAR; DRUSEN, EARLY ADULT-ONSET, GROUPED

Summary

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). [from OMIM]

Available tests

35 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

CFH
153 tests
Also known as: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS, CFH
Summary: complement factor H

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the eye
- Drusen
  Drusen
  - MedGen UID: 488956
  - Concept ID: C1260959
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature
- Progressive visual loss
  Progressive visual loss
  - MedGen UID: 326867
  - Concept ID: C1839364
  - Finding: Finding
  Abnormality of the eye
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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