Characterization of Optic Neuropathy in Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy (HMSN), is an inherited, progressive disease of the nerves resulting in weakness and numbness more pronounced in the legs than the arms. There are several sub-types of Charcot-Marie-Tooth disease based on myelin or axonal abnormalities and patterns of inheritance. Optic neuropathy has been described to some extent in some sub-types, including HMSN I and HMSN VI. To better characterize optic neuropathy in Charcot-Marie-Tooth disease, we evaluated retinal nerve fiber layer and ganglion cell layer complex thicknesses, visual evoked potentials and pattern electroretinograms in four patients.