Skip to main content
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1996 Feb;60(2):195–196. doi: 10.1136/jnnp.60.2.195

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

R M Chalmers 1, A C Bird 1, A E Harding 1
PMCID: PMC1073804  PMID: 8708653

Abstract

The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.

Full text

PDF
196

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BRIHAYE M., NENQUIN-KLAASSEN E., BERTHOLET G. Atrophie musculaire neurogène du type Charcot-Marie-Tooth-Hoffman, associée à une atrophie optique bilatérale. Acta Neurol Psychiatr Belg. 1956 May;56(5):302–312. [PubMed] [Google Scholar]
  2. Eiberg H., Kjer B., Kjer P., Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994 Jun;3(6):977–980. doi: 10.1093/hmg/3.6.977. [DOI] [PubMed] [Google Scholar]
  3. Eliott D., Traboulsi E. I., Maumenee I. H. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993 Mar 15;115(3):360–367. doi: 10.1016/s0002-9394(14)73589-5. [DOI] [PubMed] [Google Scholar]
  4. HOYT W. F. Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. Arch Ophthalmol. 1960 Dec;64:925–928. doi: 10.1001/archopht.1960.01840010927014. [DOI] [PubMed] [Google Scholar]
  5. Hagemoser K., Weinstein J., Bresnick G., Nellis R., Kirkpatrick S., Pauli R. M. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet. 1989 May;33(1):61–65. doi: 10.1002/ajmg.1320330108. [DOI] [PubMed] [Google Scholar]
  6. Krill A. E., Smith V. C., Pokorny J. Similarities between congenital tritan defects and dominant optic-nerve atrophy: coincidence or identity? J Opt Soc Am. 1970 Aug;60(8):1132–1139. doi: 10.1364/josa.60.001132. [DOI] [PubMed] [Google Scholar]
  7. Mäntyjärvi M. I., Nerdrum K., Tuppurainen K. Color vision in dominant optic atrophy. J Clin Neuroophthalmol. 1992 Jun;12(2):98–103. [PubMed] [Google Scholar]
  8. Rosenberg R. N., Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology. 1967 Sep;17(9):827–832. doi: 10.1212/wnl.17.9.827. [DOI] [PubMed] [Google Scholar]
  9. Smith D. P. Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families. Am J Optom Arch Am Acad Optom. 1972 Mar;49(3):183–200. doi: 10.1097/00006324-197203000-00001. [DOI] [PubMed] [Google Scholar]
  10. Weiller C., Ferbert A. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli). Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246–249. doi: 10.1007/BF02189534. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES