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An autosomal dominant disorder characterized by decreased vision associated with optic nerve edema, evident in childhood. Low-grade ocular inflammation is common in affected individuals. Later in childhood or the second decade of life, patients have increasing visual impairment, abnormal cone function and loss of rod function. By the third decade of life, visual acuity ranges from counting fingers to no light perception. Patients also show anhidrosis, splenomegaly, mild pancytopenia, and most experience headaches that may be migraine-like in nature.




Splenomegaly, cytopenia, and vision loss


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