Conditions / Eye
patterned macular dystrophy 2
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 CT
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.
Signs and symptoms
- Pattern dystrophy of the retina
- Reduced visual acuity
- Drusen
- Foveal hyperpigmentation
Also known as: MDPT2; butterfly-shaped pigmentary maculary dystrophy 2