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GTR Home > Conditions/Phenotypes > Patterned macular dystrophy 2

Patterned macular dystrophy 2

Summary

Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by van Lith-Verhoeven et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see 169150. [from OMIM]

Available tests

21 tests are in the database for this condition.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAP102, MDBS2, MDPT2, CTNNA1
    Summary: catenin alpha 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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