We agree with the conclusion of Mashima et al. (1) that the administration of idebenone, vitamin B2, and vitamin C may speed the recovery of vision in patients with Leber Hereditary Optic Neuropathy (LHON). Recently, we treated a LHON patient with an identical and commercially available drug: ubiquinone, or coenzyme Q10, (2,3-dimethoxy-5-methyl-1, 4-benzoquinone with a side chain of 10 isoprenoid units). His visual acuity (VA) improved dramatically within 4 months (2). Here is a clinical summary of that case:
A 21-year-old man noted the sudden onset of a visual disturbance involving the OD in November 1994. In February 1995, he developed visual blurring in the OS. Serial ophthalmologic examinations over the next 6 months revealed a decrease in visual acuity to hand movements OD and finger counting OS. Fundoscopic examination eventually showed profound optic disc pallor in the OD and mild temporal pallor in the OS, and visual fields showed bilateral central scotomas. Fluorescein angiography was unremarkable. Visual-evoked potential examination revealed an absence of P100 waves bilaterally. A homoplasmic point mutation at the 11778 position in a complex I subunit of mitochondrial DNA was noted.
Beginning in July 1995, the patient was treated with coenzyme Q10 with an initial oral dose of 90 mg/d, increasing to 160 mg/d in the 2nd month, and to 200 mg/d from the 3rd to the 12th month, after which it was withdrawn. Visual acuity improved to 20/30 OD and 20/200 OS in November 1995, 4 months after institution of coenzyme Q10. The improvement in vision persisted for the next 4 years, even after withdrawal of the medication.
The prognosis for visual recovery is generally dismal in LHON patients with the 11778A mutation (3–5). Stone et al. (6) reported that only five (4%) of 136 affected patients recovered 20/40 or better visual acuity, and visual recovery never began before 12 months. In the series by Riordan-Eva et al. (4), only one treated patient recovered within 10 months after onset of symptoms; in that patient, the type of medication and its dose was not described. In other studies, some recovery of vision did occur in LHON patients with the 11778A mutation but required several years (1,7,8). Our patient had a marked improvement of visual acuity within 4 months of starting coenzyme Q10 treatment.
Chin-Chang Huang, MD
Hung-Chou Kuo, MD
Chun-Che Chu, MD
Ling-Yuh Kao, MD
1. Mashima Y, Kigasawa K, Wakakura M, et al. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuro-Ophthalmol 2000; 20:166–70.
2. Kuo HC, Huang CC, Chu CC, Kao LY, Lee HC, Pang CY, Wei YH. Coenzyme Q10 treatment in Leber's hereditary optic neuropathy. Neuro-Ophthalmology
3. Nikoskelainen E. New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease. Neurology 1984; 34:1482–4.
4. Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical feature of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 1995; 118:319–37.
5. Harding AE, Riordan-Eva P, Govan GG. Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy. Muscle Nerve 1995; 3: S82–4.
6. Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuro-Ophthalmol 1992; 12:10–4.
7. Nikoskelainen EK. Clinical picture of LHON. Clin Neurosci 1994; 2:115–20.
8. Mashima Y, Hiida Y, Oguchi Y. Remission of Leber's hereditary optic neuropathy with idebenone. Lancet 1992; 340:368–9.