Macular Dystrophy with Central Cone Involvement

External Ids:

OMIM 57 616170 MedGen 42 C4015371 CN224989 MeSH 44 D005128

SNOMED-CT via HPO 69 258211005 246635007 397540003 7973008 302200001 13164000 312958000 424169002 more UMLS 73 C4015371

UniProtKB/Swiss-Prot : ⁷⁵ Macular dystrophy with central cone involvement: 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.

MalaCards based summary : Macular Dystrophy with Central Cone Involvement, also known as ccmd, is related to borderline personality disorder and personality disorder. An important gene associated with Macular Dystrophy with Central Cone Involvement is MFSD8 (Major Facilitator Superfamily Domain Containing 8). Affiliated tissues include eye and testes, and related phenotypes are visual impairment and optic disc pallor

Description from OMIM: 616170

Clinical features from OMIM:

616170

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy with Central Cone Involvement

Search GEO for disease gene expression data for Macular Dystrophy with Central Cone Involvement.