Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Definition
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Also known as optic nerve edema-splenomegaly syndrome, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache, ROSAH, ROSAH syndrome — per MONDO