Term Name: | familial benign fleck retina |
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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. |
Ontology: | Human Disease [DOID:0111677] ( DOID:0111677 ) |