Details of Disease | DrugMAP

General Information of Disease (ID: DISBMVDE)

Disease Name	Multifocal pattern dystrophy simulating fundus flavimaculatus
Synonyms	multifocal pattern dystrophy simulating Stargardt disease
Definition	Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.
Disease Hierarchy	DIST5BD5: Patterned dystrophy of the retinal pigment epithelium DISBMVDE: Multifocal pattern dystrophy simulating fundus flavimaculatus
Disease Identifiers	MONDO ID MONDO_0020382 UMLS CUI C4509881 MedGen ID 1376850 Orphanet ID 99003 SNOMED CT ID 723408004

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
TST	TT51OTS	Definitive	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[1]
PRPH	OT6VUH78	Definitive	Genetic Variation	[1]
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References

1	Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol. 2007 Nov;91(11):1504-11. doi: 10.1136/bjo.2007.115659. Epub 2007 May 15.