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macular dystrophy with central cone involvement

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels.
Mondo Term and Equivalent IDs
MONDO:0014515:  macular dystrophy with central cone involvement
UMLS:C4015371: