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.

Nucci, C., Martucci, A., Mancino, R., Cerulli, L. (2013). Glaucoma progression associated with Leber's hereditary optic neuropathy. INTERNATIONAL OPHTHALMOLOGY, 33(1), 75-77 [10.1007/s10792-012-9623-4].

Glaucoma progression associated with Leber's hereditary optic neuropathy

NUCCI, CARLO;MANCINO, RAFFAELE;CERULLI, LUCIANO
2013-02-01

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.
feb-2013
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/30 - MALATTIE APPARATO VISIVO
English
Intraocular Pressure; Diagnosis, Differential; Retinal Ganglion Cells; Humans; Disease Progression; DNA, Mitochondrial; Visual Fields; Ophthalmoscopy; Polymerase Chain Reaction; Glaucoma, Open-Angle; Optic Atrophy, Hereditary, Leber; Middle Aged; Mutation; Female
Nucci, C., Martucci, A., Mancino, R., Cerulli, L. (2013). Glaucoma progression associated with Leber's hereditary optic neuropathy. INTERNATIONAL OPHTHALMOLOGY, 33(1), 75-77 [10.1007/s10792-012-9623-4].
Nucci, C; Martucci, A; Mancino, R; Cerulli, L
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/95155
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