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 ) |