vision/CMT Type 6

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This is an older abstract, but refers to HMSN CMT Type 6 and vision

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From J Child Neurol. 1995 Nov;10(6):459-63.

Genetic heterogeneity of hereditary motor and sensory neuropathy type

VI.

Ippel EF, Wittebol-Post D, Jennekens FG, Bijlsma JB. Clinical Genetics

Centers, University Hospital, Utrecht, The Netherlands.

Charcot-Marie-Tooth disease comprises a heterogeneous group of

neurologic disorders that shape peripheral motor and sensory

neuropathy. A classification of these disorders was proposed in

1975, defining seven types of hereditary motor and sensory

neuropathy. Clinical features of hereditary motor and sensory

neuropathy type VI are muscle weakness and atrophy in leg and

hand muscles, leading to progressive disability and loss of vision

and progressing to blindness due to optic atrophy. Hereditary motor and

sensory neuropathy type VI was first reported in 1879 by Vizioli, who

described a kinship in which a father and two sons

presented with peroneal muscular atrophy in association with optic

atrophy. Since then, at least nine similar cases have been reported:

three sporadic cases, two pairs of siblings who were offspring of

consanguineous parents, and one pair of siblings who were offspring of

unrelated parents suggesting autosomal recessive inheritance. Vertical

transmission has been reported only by Vizioli. We present a father and

two offspring (one boy and one girl) with the above-mentioned

characteristic features of hereditary motor and sensory neuropathy type

VI. Vizioli's kinship and either an autosomal recessive or autosomal

dominant pattern of inheritance.