Term Name: | patterned macular dystrophy 2 |
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Synonyms: | butterfly-shaped pigmentary maculary dystrophy 2, MDPT2 |
Definition: | A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. |
Ontology: | Human Disease [DOID:0060864] ( DOID:0060864 ) |