Chronic myelogenous leukemia and retinopathy treated with imatinib

To describe a case of a rapid clinical response to treatment of leukemic retinopathy and optic nerve infiltration with cytoreductive therapy, including imatinib mesylate (Gleevec), without radiation therapy.

Observational case report.

A 13-year-old boy presented with blurry vision and a visual acuity of 20/20 in each eye. On examination, he had infiltrative retinopathy and optic nerve elevation bilaterally. Further testing revealed chronic myelogenous leukemia with severe leukocytosis. The results of the bone marrow biopsy showed the Philadelphia chromosome, t(9;22), which indicated he might respond to imatinib. He was treated with leukopheresis, followed by systemic imatinib and hydroxyurea, and his leukemic retinopathy and optic neuropathy quickly improved.

This case demonstrates an excellent clinical response to systemic therapy, including imatinib, without urgent radiation. It is possible, in select cases, to consider treatment with systemic cytoreductive therapy in patients with infiltrative optic neuropathy and retinopathy with the Philadelphia chromosome.