Abstract
AIMS—To investigate pattern of visual recovery of nine patients with Leber's hereditary optic neuropathy (LHON) and a mitochondrial DNA mutation at 11778. METHODS—Recovery was judged significant when a gain of two lines or more in the Landolt ring chart, 10 dB or more improvement of the mean deviation of static perimetry, or improvement of critical flicker frequency (CFF) over 35 Hz was shown. RESULTS—All three visual functions tested dramatically recovered in one patient. Two other patients exhibited isolated improvement of CFF or visual field, respectively. CONCLUSION—Partial improvement of visual function may be more widespread than previously recognised in LHON patients with the 11778 mutation.
Full Text
The Full Text of this article is available as a PDF (98.6 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Chalmers R. M., Schapira A. H. Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy. Biochim Biophys Acta. 1999 Feb 9;1410(2):147–158. doi: 10.1016/s0005-2728(98)00163-7. [DOI] [PubMed] [Google Scholar]
- Jacobson D. M., Olson K. A. Impaired critical flicker frequency in recovered optic neuritis. Ann Neurol. 1991 Aug;30(2):213–215. doi: 10.1002/ana.410300216. [DOI] [PubMed] [Google Scholar]
- Kerrison J. B., Newman N. J. Clinical spectrum of Leber's hereditary optic neuropathy. Clin Neurosci. 1997;4(5):295–301. [PubMed] [Google Scholar]
- Mashima Y., Hiida Y., Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet. 1992 Aug 8;340(8815):368–369. doi: 10.1016/0140-6736(92)91442-b. [DOI] [PubMed] [Google Scholar]
- Nakamura M., Fujiwara Y., Yamamoto M. Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. Invest Ophthalmol Vis Sci. 1993 Mar;34(3):488–495. [PubMed] [Google Scholar]
- Nikoskelainen E. K., Huoponen K., Juvonen V., Lamminen T., Nummelin K., Savontaus M. L. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996 Mar;103(3):504–514. doi: 10.1016/s0161-6420(96)30665-9. [DOI] [PubMed] [Google Scholar]
- Otori T. [Basic and clinical aspects of modern perimetry]. Nippon Ganka Gakkai Zasshi. 1998 Dec;102(12):779–795. [PubMed] [Google Scholar]
- Stone E. M., Newman N. J., Miller N. R., Johns D. R., Lott M. T., Wallace D. C. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992 Mar;12(1):10–14. [PubMed] [Google Scholar]
- Wallace D. C., Singh G., Lott M. T., Hodge J. A., Schurr T. G., Lezza A. M., Elsas L. J., 2nd, Nikoskelainen E. K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988 Dec 9;242(4884):1427–1430. doi: 10.1126/science.3201231. [DOI] [PubMed] [Google Scholar]
- Woung L. C., Wakakura M., Ishikawa S. Critical flicker frequency in acute and recovered optic neuritis. Jpn J Ophthalmol. 1993;37(2):122–129. [PubMed] [Google Scholar]