Condition: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
rs755215402
in
CTNNA1
gene and
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
PMID 26691986
2016 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.