Charcot-Marie-Tooth Disease, Retinal Degeneration

Synonyms

Hereditary motor-sensory neuropathy retinal degeneration

Definition

Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy with an incidence of 1 in 2,500 live births. CMT is a demyelinating disorder comprised seven different major types with types 1 and 2 being the most common involving over 30 different identified genes. Patients typically present during early adulthood with motor and sensory peripheral polyneuropathy leading to distal leg weakness, foot deformities such as pes cavus or hammer toes, and sensory deficits. Ambulation is usually maintained throughout life, and life expectancy is not affected. The management of CMT is primarily supportive as specific disease-modifying therapy is not yet available.

Ocular symptoms are not invariably present. The most common ophthalmic symptoms are bilateral subacute deterioration of visual acuity accompanied by a central or paracentral scotomaand color vision abnormalities usually affecting the...