Details of Disease

General Information of Disease (ID: DISNQ872)

Disease Name Vitelliform macular dystrophy 2
Synonyms
macular Degeneration, polymorphic vitelline; macular dystrophy, vitelliform, 2; Best vitelliform macular dystrophy, multifocal; VMD2; vitelliform macular dystrophy, type 2; BEST1 retinopathy; macular dystrophy, vitelliform, type 2; Best macular dystrophy; vitelliform macular dystrophy, early-onset; vitelliform macular dystrophy, juvenile-onset; vitelliform macular dystrophy type 2; Best Vitelliform Macular Dystrophy; early-onset vitelliform macular dystrophy; polymorphic vitelline macular degeneration; juvenile-onset vitelliform macular dystrophy; Best disease; BVMD; BMD; macular degeneration, polymorphic vitelline
Definition
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.
Disease Hierarchy
DISEFYYN: Vitelliform macular dystrophy
DISRXK5T: BEST1-related dominant retinopathy
DISNQ872: Vitelliform macular dystrophy 2
Disease Identifiers
MONDO ID
MONDO_0007931
MESH ID
D057826
UMLS CUI
C2745945
OMIM ID
153700
MedGen ID
411553
Orphanet ID
1243
SNOMED CT ID
763387005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BEST1 OTWHE1ZC Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.