Journal of Pediatric Neurology 2017; 15(01): 038-043
DOI: 10.1055/s-0036-1593830
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Hereditary Optic Neuropathies

Authors

  • Eman E. Hawy

    1   Department of Neurology, University of Vermont, Burlington, Vermont, United States
  • Phil A. Aitken

    2   Department of Ophthalmology, University of Vermont, Burlington, Vermont, United States
Further Information

Publication History

31 July 2016

11 September 2016

Publication Date:
04 November 2016 (online)

Preview

Abstract

Hereditary optic neuropathies are a group of disorders that share similar presentation and have a genetic background. Presentation is mostly early in life with painless central vision loss that is commonly bilateral and sometimes associated with other neurological manifestations. Two common forms of hereditary optic neuropathies are Leber's hereditary optic neuropathy and the less severe dominant optic atrophy. Multiple other forms exist and may present as a monosymptomatic disease or as part of a syndrome. Although management is mostly focused on genetic counseling as well as supportive care, gene therapy has given hope for treatment, and clinical trials are ongoing.