Disease ID | Source | Name | Description |
616151 | OMIM | Macular dystrophy, vitelliform, 4 (VMD4) | 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. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity. The disease is caused by variants affecting the gene represented in this entry. |