Details of Disease

General Information of Disease (ID: DIS04BI1)

Disease Name Retinal drusen
Definition
Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.
Disease Hierarchy
DISBIA4H: Degeneration of macula and posterior pole
DIS04BI1: Retinal drusen
Disease Identifiers
MONDO ID
MONDO_0006949
MESH ID
D015593
UMLS CUI
C0035312
MedGen ID
20549
SNOMED CT ID
247153005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AMD1 TTBFROQ Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARMS2 OTUXHJ9H Limited Biomarker [2]
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References

1 Fluorescence Lifetimes of Drusen in Age-Related Macular Degeneration.Invest Ophthalmol Vis Sci. 2017 Sep 1;58(11):4856-4862. doi: 10.1167/iovs.17-22184.
2 Genotype-phenotype associations in neovascular age-related macular degeneration.Retina. 2012 Oct;32(9):1950-8. doi: 10.1097/IAE.0b013e31824dadf1.