Term Name: patterned macular dystrophy 1
Synonyms: butterfly-shaped pigmentary maculary dystrophy 1, MDPT1
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 PRPH2 gene on chromosome 6p21.
Ontology: Human Disease [DOID:0060866]   ( DOID:0060866 )

Relationships
is a type of: patterned macular dystrophy