Bilateral Optic Neuropathies Due to Homozygous Lepore Hemoglobinopathy

Structural neuroimaging with contrast MRI or CT scan of the orbits and brain and OCT may provide diagnostic information, including the fact of and the degree of compression of the optic nerves and, in the case of CT, the presence and type of bony abnormalities.1 Our patient’s background, history, pattern, and clinical features did not support typical forms of ischemic, inflammatory, infectious, hereditary, or traumatic optic neuropathies. There is experimental evidence that oxidative damage by ferrous iron may contribute to some optic neuropathies (optic neuritis, non-arteritic ischemic optic neuropathy, traumatic optic neuropathy, glaucoma),3 but our patient’s optic neuropathies did not conform to these types of optic neuropathy. Neurological complications may rarely arise as a result of thalassemia.4 Four cases of optic neuropathy due to thalassemia have been reported,5–8 but to our knowledge, none due to the very rare homozygous form of Lepore hemoglobinopathy.