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Arch Ophthalmol. 2001;119:1547-1550.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

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.^1-6 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.

Report of Cases

Distinct neurological disease and glaucoma were found in a Japanese family who were residents in Amami-Ohshima, an island about 200 miles south from the mainland of Japan. As shown in . . . [Full Text of this Article]

Case 1

Case 2

Case 3

Results

Histologic Characteristics of Nerve Biopsy Specimens

Molecular Genetic Testing Related to Glaucoma

Comment

Corresponding author: Kazuhiko Unoki, MD, PhD, Department of Ophthalmology, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima-shi 890-8520, Japan (e-mail: kazuhiko@m2.kufm.kagoshima-u.ac.jp).