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GTR Home > Conditions/Phenotypes > Macular dystrophy, retinal, 4

Macular dystrophy, retinal, 4

Summary

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]

Genes See tests for all associated and related genes

  • Also known as: MCDR4, TN, TNA, CLEC3B
    Summary: C-type lectin domain family 3 member B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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