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familial benign flecked retina

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region.
Mondo Term and Equivalent IDs
MONDO:0009235:  familial benign flecked retina
DOID:0111677: 
MESH:C565564: 
Orphanet:363989: 
UMLS:C1856718: