Details of Disease | DrugMAP

General Information of Disease (ID: DIS7TAK1)

Disease Name	Familial benign flecked retina
Synonyms	FRFB; FLECK retina, familial benign; fleck retina, familial benign
Definition	Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.
Disease Hierarchy	DISGGL77: Inherited retinal dystrophy DIS7TAK1: Familial benign flecked retina
Disease Identifiers	MONDO ID MONDO_0009235 MESH ID C565564 UMLS CUI C1856718 OMIM ID 228980 MedGen ID 341605 Orphanet ID 363989 SNOMED CT ID 770434009

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
PLA2G5	OTQRSKCZ	Definitive	Autosomal recessive	[1]
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References

1	Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1.