Hereditary motor and sensory neuropathy type VI with optic atrophy

• Published in: American journal of ophthalmology Vol. 136; no. 4; pp. 670 - 677
• Main Authors: Voo, Irene, Allf, Bryan E, Udar, Nitin, Silva-Garcia, Rosamaria, Vance, Jeffrey, Small, Kent W
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.10.2003; Elsevier; Elsevier Limited
• Subjects: Adult; Aged; Biological and medical sciences; Child; Diseases of visual field, optic nerve, optic chiasma and optic tracts; DNA Mutational Analysis; Family medical history; Female; Genes; Glaucoma; GTP Phosphohydrolases - genetics; Hereditary Sensory and Motor Neuropathy - complications; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - pathology; Human viral diseases; Humans; Infectious diseases; Male; Medical sciences; Middle Aged; Mutation; Nervous system; Ophthalmology; Optic Atrophy, Autosomal Dominant - complications; Optic Atrophy, Autosomal Dominant - genetics; Optic Atrophy, Autosomal Dominant - pathology; Optic Disk - pathology; Pedigree; Syndrome; Viral diseases; Viral diseases with cutaneous or mucosal lesions and viral diseases of the eye; Visual Acuity; Atrophy; Human; Eye disease; Nervous system diseases; Phenotype; Cranial nerve disease; Optic nerve; Optic neuropathy; Family study; Optics; Gene expression; Hereditary
• ISSN: 0002-9394; 1879-1891
• DOI: 10.1016/S0002-9394(03)00390-8

To present the detailed clinical findings of a large family with hereditary motor and sensory neuropathy type VI (HMSN VI), a syndrome featuring optic atrophy. Observational case series. A detailed history was obtained and physical examination was made of the extended family of the proband for evidence of neurologic dysfunction. The OPA1 gene was screened for mutations by direct DNA sequencing. Twelve of 97 family members examined are affected with signs of HMSN VI. Three other members have either optic atrophy or peripheral neuropathy, thus allowing an appreciation of the full clinical spectrum of disease. No mutations were found in the OPA1 gene. This family demonstrates the variable expressivity of this disorder as well as incomplete penetrance. This is the largest known family with HMSN VI. No association was found with changes in the OPA1 gene.