Hereditary motor and sensory neuropathy with congenital glaucoma

We report three siblings of a family with hereditary motor and sensory plyneuropathy (HMSN) and buphthalmos. Eletrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recesive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.