Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants
Background We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction.Method A group of LHON-affected patients (n=12) and their asymptomatic maternal relatives (n=16) under...
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BMJ Publishing Group
2024-05-01
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| Series: | BMJ Open Ophthalmology |
| Online Access: | https://bmjophth.bmj.com/content/9/1/e001295.full |
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| author | Paul F Kenna Kirk A J Stephenson Lorraine Cassidy Clare Quigley |
| author_facet | Paul F Kenna Kirk A J Stephenson Lorraine Cassidy Clare Quigley |
| author_sort | Paul F Kenna |
| collection | DOAJ |
| description | Background We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction.Method A group of LHON-affected patients (n=12) and their asymptomatic maternal relatives (n=16) underwent examination including visual acuity (VA), visual-evoked-potential and optic nerve imaging including optical coherence tomography (OCT) and OCT angiography of the peripapillary retinal nerve fibre layer (RNFL). A control sample was also examined (n=10). The software imageJ was used to measure perfusion by assessing vessel density (VD), and statistical software ‘R’ was used to analyse data.Results The LHON-affected group (n=12) had significantly reduced peripapillary VD (median 7.9%, p=0.046). Overall, the LHON asymptomatic relatives (n=16) had no significant change in peripapillary VD (p=0.166), though three eyes had VD which fell below the derived normal range at 6% each, with variable VA from normal to blindness; LogMAR median 0, range 0–2.4. In contrast, RNFL thickness was significantly reduced in the LHON-affected group (median 51 µm, p=0.003), and in asymptomatic relatives (median 90 µm, p=0.01), compared with controls (median 101 µm). RNFL thinning had greater specificity compared with reduced perfusion for optic nerve dysfunction in asymptomatic carriers (92% vs 66%).Conclusion Overall, reduced peripapillary retinal nerve fibre layer perfusion was observed in those affected by LHON but was not reduced in their asymptomatic relatives, unlike RNFL thinning which was significantly reduced in both groups versus controls. The presence of RNFL changes was associated with signs of optic neuropathy in asymptomatic relatives. |
| format | Article |
| id | doaj-art-ec13de1eac254affbe7b34f810515a4f |
| institution | Kabale University |
| issn | 2397-3269 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | BMJ Publishing Group |
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| series | BMJ Open Ophthalmology |
| spelling | doaj-art-ec13de1eac254affbe7b34f810515a4f2025-02-06T07:55:09ZengBMJ Publishing GroupBMJ Open Ophthalmology2397-32692024-05-019110.1136/bmjophth-2023-001295Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variantsPaul F Kenna0Kirk A J Stephenson1Lorraine Cassidy2Clare Quigley3Department of Ophthalmology, Royal Victoria Eye and Ear Hospital Dublin, Dublin, IrelandDepartment of Ophthalmology, Royal Victoria Eye and Ear Hospital Dublin, Dublin, IrelandDepartment of Ophthalmology, Royal Victoria Eye and Ear Hospital Dublin, Dublin, IrelandDepartment of Ophthalmology, Royal Adelaide Hospital, Adelaide, South Australia, AustraliaBackground We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction.Method A group of LHON-affected patients (n=12) and their asymptomatic maternal relatives (n=16) underwent examination including visual acuity (VA), visual-evoked-potential and optic nerve imaging including optical coherence tomography (OCT) and OCT angiography of the peripapillary retinal nerve fibre layer (RNFL). A control sample was also examined (n=10). The software imageJ was used to measure perfusion by assessing vessel density (VD), and statistical software ‘R’ was used to analyse data.Results The LHON-affected group (n=12) had significantly reduced peripapillary VD (median 7.9%, p=0.046). Overall, the LHON asymptomatic relatives (n=16) had no significant change in peripapillary VD (p=0.166), though three eyes had VD which fell below the derived normal range at 6% each, with variable VA from normal to blindness; LogMAR median 0, range 0–2.4. In contrast, RNFL thickness was significantly reduced in the LHON-affected group (median 51 µm, p=0.003), and in asymptomatic relatives (median 90 µm, p=0.01), compared with controls (median 101 µm). RNFL thinning had greater specificity compared with reduced perfusion for optic nerve dysfunction in asymptomatic carriers (92% vs 66%).Conclusion Overall, reduced peripapillary retinal nerve fibre layer perfusion was observed in those affected by LHON but was not reduced in their asymptomatic relatives, unlike RNFL thinning which was significantly reduced in both groups versus controls. The presence of RNFL changes was associated with signs of optic neuropathy in asymptomatic relatives.https://bmjophth.bmj.com/content/9/1/e001295.full |
| spellingShingle | Paul F Kenna Kirk A J Stephenson Lorraine Cassidy Clare Quigley Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants BMJ Open Ophthalmology |
| title | Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants |
| title_full | Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants |
| title_fullStr | Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants |
| title_full_unstemmed | Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants |
| title_short | Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants |
| title_sort | peripapillary retinal nerve fibre layer thinning perfusion changes and optic neuropathy in carriers of leber hereditary optic neuropathy associated mitochondrial variants |
| url | https://bmjophth.bmj.com/content/9/1/e001295.full |
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