Abstract
The purpose of this article is to describe a case of open-angle glaucoma progression associated with Leber’s hereditary optic neuropathy. Single case analysis method is used. A 53-year-old woman with a previous diagnosis of glaucoma presented with progressive visual field loss. Complete ophthalmological examination and blood tests were negative for other concomitant diseases. Genetic counseling revealed mitochondrial DNA mutation compatible with the diagnosis of Leber’s hereditary optic neuropathy. In conclusion, the case describes the concomitant occurrence of open-angle glaucoma and Leber’s optic neuropathy. We hypothesize that the two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the consequent rapid progression of visual impairment. Screening for mitochondrial DNA mutations may be requested in patients with glaucoma who, despite pharmacologically controlled intraocular pressure, show rapid progression of the disease.
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References
Cedrone C, Mancino R, Cerulli A, Cesareo M, Nucci C (2008) Epidemiology of primary glaucoma: prevalence, incidence, and blinding effects. Prog Brain Res 173:3–14
Man PYW, Turnbull DM, Chinnery PF (2002) Leber hereditary optic neuropathy. J Med Genet 39:162–169
Russo R, Cavaliere F, Rombolà L, Gliozzi M, Cerulli A, Nucci C, Fazzi E, Bagetta G, Corasaniti MT, Morrone LA (2008) Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection. Prog Brain Res 173:575–582
Mashima Y, Kimura I, Yamamoto Y, Ohde H, Ohtake Y, Tanino T, Tomita G, Oguchi Y (2003) Optic disc excavation in the atrophic stage of Leber’s hereditary optic neuropathy: comparison with normal tension glaucoma. Graefes Arch Clin Exp Ophthalmol 241(2):75–80
Alward WL, Johnson AT, Nishimura DY, Sheffeld VC, Stone EM (1996) Molecular genetics of glaucoma: current status. J Glaucoma 5:276–284
Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R, Angelini C, Lugaresi E (1995) mtDNA mutations associated with Leber’s hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 210:880–888
Wong A, Cavelier L, Collins-Schramm HE, Seldin MF, McGrogan M, Savontaus ML, Cortopassi GA (2002) Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum Mol Genet 11:431–438
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Nucci, C., Martucci, A., Mancino, R. et al. Glaucoma progression associated with Leber’s hereditary optic neuropathy. Int Ophthalmol 33, 75–77 (2013). https://doi.org/10.1007/s10792-012-9623-4
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DOI: https://doi.org/10.1007/s10792-012-9623-4