title: Glaucoma progression associated with Leber's hereditary optic neuropathy.
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.
authors.affiliation: Ophthalmological Unit, Department of Experimental Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, Rome, Italy. nucci@med.uniroma2.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Nucci
authors.forename: Alessio
authors.initials: A
authors.lastname: Martucci
authors.forename: Raffaele
authors.initials: R
authors.lastname: Mancino
authors.forename: Luciano
authors.initials: L
authors.lastname: Cerulli
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007429:Intraocular Pressure; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy; D029242:Optic Atrophy, Hereditary, Leber / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012165:Retinal Ganglion Cells / Q000473:pathology; D014794:Visual Fields
chemical_list: D004272:DNA, Mitochondrial