Macular dystrophy, retinal, 4- MedGen UID:
- 1823960
- •Concept ID:
- C5774187
- •
- Disease or Syndrome
Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550).