DISEASES

Disease-gene associations mined from literature

Human genes for familial benign fleck retina

Familial benign fleck retina [DOID:0111677]

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 PLA2G5 on chromosome 1p36.13.

Synonyms:  familial benign fleck retina,  DOID:0111677,  hereditary benign fleck retina,  familial benign fleck retinas,  FRFB