familial benign fleck retina

Term ID

DOID:0111677

Synonyms

• FRFB

Definition

A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. https://www.ncbi.nlm.nih.gov/pubmed/22137173

References

• MESH:C565564
• OMIM:228980
• ORDO:363989
• SNOMEDCT_US_2023_03_01:770434009
• UMLS_CUI:C1856718

Ontology

Human Disease   ( DOID:0111677 )