Conditions / Eye
patterned macular dystrophy 1
info · Eye
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 PR
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.
Signs and symptoms
- Pattern dystrophy of the retina
- Yellow/white retinal lesion
- Reticular retinal dystrophy
- Reduced visual acuity
- Macular dystrophy
- Dark choroid
- Nyctalopia
- Metamorphopsia
- Photophobia
- Absent foveal reflex
Also known as: MDPT1; butterfly-shaped pigmentary maculary dystrophy 1