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1.

Macular dystrophy, retinal, 4

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). [from OMIM]

MedGen UID:
1823960
Concept ID:
C5774187
Disease or Syndrome
2.

Reduced OCT-measured foveal thickness

MedGen UID:
892629
Concept ID:
C4073089
Finding

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