Term Name: patterned macular dystrophy 2
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 )

Relationships
is a type of: patterned macular dystrophy