familial benign fleck retina (DOID:0111677)
Alliance: disease page
Synonyms: FRFB
Alt IDs: OMIM:228980, MESH:C565564, ORDO:363989, UMLS_CUI:C1856718
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.