Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma
Details
Serval ID
serval:BIB_F0567B2B1EE8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma
Journal
Graefe's Archive for Clinical and Experimental Ophthalmology
ISSN
0721-832X (Print)
Publication state
Published
Issued date
07/2001
Volume
239
Number
6
Pages
437-40
Notes
Journal Article --- Old month value: Jul
Abstract
BACKGROUND: in Leber's hereditary optic neuropathy, increased optic nerve cupping has been reported by several authors. Recently, a mitochondrial DNA (mtDNA) mutation at nucleotide 11778 typically associated with Leber's hereditary optic neuropathy (LHON) was identified in a patient treated for glaucoma but lacking typical signs of LHON. The question arises: should all normal-tension glaucoma patients be further evaluated for LHON? METHODS: we screened 54 unselected patients with normal-tension glaucoma (age range 20-96 years, 16 men and 38 women) for the primary mtDNA LHON mutations at nucleotides 3460, 11778 and 14484. RESULTS: none of the patients harboured the mtDNA mutations at nucleotides 3460, 11778 or 14484 (95% confidence intervals for each mutation ranged from 0% to 5.3%). CONCLUSIONS: primary LHON mtDNA mutations are rare or absent in unselected normal-tension glaucoma patients. Therefore, unselected normal-tension glaucoma patients should not be screened for these mutations. It is probable that only normal-tension glaucoma patients with atypical features (rapid progression, early deep central scotoma, pallor of neuroretinal rim, elevated disc, peripapillary teleangiectasia) or a positive family history of visual loss compatible with a matrilinear transmission should be further evaluated.
Keywords
Adult
Aged
Aged, 80 and over
DNA Mutational Analysis
DNA Primers/chemistry
DNA, Mitochondrial/*genetics
Female
Glaucoma, Open-Angle/*genetics
Humans
Intraocular Pressure
Male
Middle Aged
Optic Atrophy, Hereditary, Leber/*genetics
Polymerase Chain Reaction
Pubmed
Web of science
Create date
28/01/2008 13:49
Last modification date
20/08/2019 17:18