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vitelliform macular dystrophy 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.
Uniprot Description A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity.