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Clinicopathologic Reports, Case Reports and Small Case Series
October 2001

Hereditary Motor and Sensory Neuropathy Associated With Juvenile Glaucoma

Arch Ophthalmol. 2001;119(10):1547-1550. doi:

Hereditary motor and sensory neuropathy (HMSN) belongs to a heterogeneous group of hereditary neurological disorders characterized by progressive muscular atrophy and weakness of limbs due to peripheral neuropathies or Charcot-Marie-Tooth disease (CMT), also known as peroneal muscular atrophy. Only a few cases were reported of an association of HMSN with primary optic atrophy or retinitis pigmentosa.16 We report on the cases of 3 sibs, the offspring of consanguineous Japanese parents, who had juvenile glaucoma or ocular hypertension in association with autosomal recessive HMSN. Two of the sibs had juvenile glaucoma and 1 had ocular hypertension. To our knowledge, the association of these neurological and ocular disorders has not previously been reported. The family may represent a new variant of heterogeneous HMSN.

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