Optic Atrophy in Thalassemia Intermedia

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A 21-year-old man with thalassemia intermedia presented with progressive decrease in vision and was found to have severe bilateral optic atrophy. Orbital and brain neuroimaging revealed massive diffuse expansion of the diploe of the craniofacial bones, narrowing of the optic canals, and expansion of hematopoietic tissue in the sellar region with compression of the optic chiasm. Although increased bone marrow is a well-known consequence of thalassemia, optic atrophy due to and such marked extramedullary expansion of hematopoietic tissue is a very rare phenomenon. Decompression of extramedullary hematopoietic tumors from thalassemia may be achieved with blood transfusions alone without the need for radiation or surgery. These findings suggest careful periodic ophthalmic examination of thalassemic patients.

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