![Marcela Votruba BM BCh FRCOphth PhD](https://profiles-cardiff.imgix.net/attachments/2879?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Professor Marcela Votruba
BM BCh FRCOphth PhD
Professor and Hon. Consultant in Ophthalmology
School of Optometry and Vision Sciences
- Media commentator
- Available for postgraduate supervision
Overview
Summary
The Mitochondria & Vision Research Group (M Votruba Lab) is interested in the role of mitochondrial dysfunction due to mutation in an expanding number of genes, in the pathophysiology of inherited optic neuropathy. Our approach has placed an emphasis on generating model systems to study retinal ganglion cell (RGC) loss and inner retinal degeneration. The current direction is to explore and evaluate novel therapeutic interventions.
My research spans two themes- Neuroscience and Ageing (https://www.cardiff.ac.uk/optometry-vision-sciences/research/themes/neurodegeneration-and-ageing) and Stem cells, Regeneration and Repair (https://www.cardiff.ac.uk/optometry-vision-sciences/research/themes/stem-cells,-regeneration-and-repair).
It is embedded in two multi-disciplinary research groups- Neurodegeneration to Regeneration (https://www.cardiff.ac.uk/research/explore/research-units/n2r) and Ocular Therapeutics (https://www.cardiff.ac.uk/research/explore/research-units/ocular-therapeutics).
As part of my role as a Clinician Scientist, I also manage patients at the University Hospital Wales Eye Department with inherited eye diseases such as inherited retinal dystrophies and optic neuropathies, running a Retinal Clinic and a Genetic Eye Clinic. I also take part in both commercial and academic clinical research and trials. I am the HCRW National Ophthalmology Specialty Lead for Wales & Member of the UK NIHR Specialty Lead Panel for Ophthalmology.
Previously I served as Head of the School of Optometry & Vision Sciences for 6 years) (2014-2019).
Research Overview
My goals are aimed at developing a deeper understanding of inherited eye disease and ultimately utilizing my position as a clinical ophthalmologist to drive the application of translational research in this area. My primary research interest is the pathophysiology of hereditary retinal and optic nerve diseases. I am currently investigating inherited optic neuropathies, which are a pure model of isolated retinal ganglion cell loss. They demonstrate a central role for mitochondria and show progressive neurodegeneration. Retinal ganglion cells are the cells that make up the nerve of vision, taking impulses from the retina to the brain. Autosomal dominant optic atrophy is the commonest inherited optic neuropathy. It is caused by mutations in the OPA1 gene, leading to visual loss, which first starts in children and young people. Clinical understanding of the disease is poor, although we have clinical and some pathological evidence that retinal ganglion cells are deficient in the eyes of patients. There is no treatment available. Conventional clinical or research strategies have yet to make any clinical impact on this state of affairs. The mechanism of action of the mutant protein OPA1 is not known, but clues exist suggesting that the shape or function of small organelles in the cell, mitochondria, may be involved. Mitochondria are important in generating energy in the cell. Following on from our work to characterize the disease phenotype and clone the disease gene, my group has analyzed the spectrum of mutations in the OPA1 gene and genotype/ phenotype correlations. We have performed functional and expression studies of the OPA1 gene and assessed its wider role in inherited optic neuropathy and we are developing model systems to explore the mechanisms and pathways of RGC loss and exploring and testing novel therapies.
https://www.youtube.com/watch?v=PjP8ACbprKc
See most recent LHON Forum 2022 recording: www.opticnervenetwork.com
https://faculti.net/visual-improvement-in-patients-with-lebers-hereditary-optic-neuropathy/
HCRW Specialty Lead Ophthalmology: https://healthandcareresearchwales.org/votruba
https://www.fightforsight.org.uk/news-and-articles/articles/news/international-womens-day-2023/
Publication
2024
- Cimaglia, G., Tribble, J. R., Votruba, M., Williams, P. A. and Morgan, J. E. 2024. Oral nicotinamide provides robust, dose-dependent structural and metabolic neuroprotection of retinal ganglion cells in experimental glaucoma. Acta Neuropathologica Communications 12, article number: 137. (10.1186/s40478-024-01850-8)
- Bourne, R. R. A. et al. 2024. The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK. Eye 38, pp. 1947-1957. (10.1038/s41433-024-03049-6)
- Yu-Wai-Man, P. et al. 2024. Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial. Cell Reports Medicine 5(3), article number: 101437. (10.1016/j.xcrm.2024.101437)
- Ng, V., Ying Li, C., Cornes, P. and Votruba, M. 2024. The landscape of clinical trials research in inherited ophthalmic disease. Ophthalmic Genetics 45(6), pp. 558-565. (10.1080/13816810.2024.2378013)
2022
- Thomas, R. H. et al. 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45(4), pp. 796-803. (10.1002/jimd.12521)
2021
- Beirne, K., Freeman, T. J., Rozanowska, M. and Votruba, M. 2021. Red light irradiation in vivo upregulates DJ-1 in the retinal ganglion cell layer and protects against axotomy-related dendritic pruning. International Journal of Molecular Sciences 22(16), article number: 8380. (10.3390/ijms22168380)
- Tribble, J. R. et al. 2021. Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction. Redox Biology 43, article number: 101988. (10.1016/j.redox.2021.101988)
- Kim, D., Votruba, M. and Roy, S. 2021. Opa1 deficiency promotes development of retinal vascular lesions in diabetic retinopathy. International Journal of Molecular Sciences 22(11), article number: 5928. (10.3390/ijms22115928)
- Erchova, I., Sun, S. and Votruba, M. 2021. A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1. Frontiers in Neurology 12, article number: 641259. (10.3389/fneur.2021.641259)
- Ng, W. S. V. et al. 2021. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic Advances in Rare Disease 2, pp. 1-14. (10.1177/26330040211029037)
2020
- Catarino, C. B. et al. 2020. Real-world clinical experience with Idebenone in the treatment of Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology 40(4), pp. 558-565. (10.1097/WNO.0000000000001023)
- Varricchio, C., Beirne, K., Aeschlimann, P., Heard, C., Rozanowska, M., Votruba, M. and Brancale, A. 2020. Discovery of Novel 2-Aniline-1,4-naphthoquinones as potential new drug treatment for Leber’s hereditary optic neuropathy (LHON). Journal of Medicinal Chemistry 63(22), pp. 13638 -13655. (10.1021/acs.jmedchem.0c00942)
- Cimaglia, G., Votruba, M., Morgan, J. E., André, H. and Williams, P. A. 2020. Potential therapeutic benefit of NAD+ supplementation for glaucoma and age-related macular degeneration. Nutrients 12(9), article number: 2871. (10.3390/nu12092871)
- Bevan, R. J. et al. 2020. OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory. Brain Communications 2(2), article number: fcaa101. (10.1093/braincomms/fcaa101)
- Meschede, I. P., Ovenden, N. C., Seabra, M. C., Futter, C. E., Votruba, M., Cheetham, M. E. and Burgoyne, T. 2020. Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1. Proceedings of the National Academy of Sciences 117(27), pp. 15684-15693., article number: 3. (10.1073/pnas.2000304117)
- Charif, M. et al. 2020. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurology Genetics 6(3), article number: e428. (10.1212/NXG.0000000000000428)
- Sun, S., Erchova, I., Sengpiel, F. and Votruba, M. 2020. Opa1 deficiency leads to diminished mitochondrial bioenergetics with compensatory increased mitochondrial motility. Investigative Ophthalmology & Visual Science 61(6), article number: 42. (10.1167/iovs.61.6.42)
- Varricchio, C., Beirne, K., Heard, C., Newland, B., Rozanowska, M., Brancale, A. and Votruba, M. 2020. The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. Free Radical Biology and Medicine 152, pp. 551-560. (10.1016/j.freeradbiomed.2019.11.030)
2019
- Jurkute, N. et al. 2019. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Annals of Neurology 86(3), pp. 368-383. (10.1002/ana.25550)
- Morny, E. K. A., Patel, K., Votruba, M., Binns, A. and Margrain, T. 2019. The relationship between the photopic negative response and retinal ganglion cell topography. Investigative Ophthalmology & Visual Science 60(6), pp. 1879-1887. (10.1167/iovs.18-25272)
- Jurkute, N. et al. 2019. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. European Journal of Human Genetics 27, pp. 494-502. (10.1038/s41431-018-0235-y)
- Kousal, B. et al. 2019. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmologica 97(1), pp. e71-e76. (10.1111/aos.13817)
2018
- Diot, A. et al. 2018. Validating the RedMIT/GFP-LC3 mouse model by studying mitophagy in Autosomal Dominant Optic Atrophy due to the OPA1Q285STOP mutation. Frontiers in Cell and Developmental Biology 6, article number: 103. (10.3389/fcell.2018.00103)
- Dawson, S. R. et al. 2018. Ophthalmology research in the UK's National Health Service: the structure and performance of the NIHR?s Ophthalmology research portfolio. Eye 33, pp. 610-618. (10.1038/s41433-018-0251-8)
2017
- Mahajan, D. and Votruba, M. 2017. Can the retina be used to diagnose and plot the progression of Alzheimer's disease?. Acta Ophthalmologica 95(8), pp. 768-777. (10.1111/aos.13472)
- Carelli, V. et al. 2017. International consensus statement on the clinical and therapeutic management of Leber's Hereditary Optic Neuropathy.. Journal of Neuro-Ophthalmology 37(4), pp. 371-381. (10.1097/WNO.0000000000000570)
- Majander, A. et al. 2017. Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology 101(11), pp. 1505-1509. (10.1136/bjophthalmol-2016-310072)
- Mahajan, D. and Votruba, M. 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95(S259) (10.1111/j.1755-3768.2017.02682)
- Majinder, A. et al. 2017. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. Mitochondrion 36, pp. 138-149. (10.1016/j.mito.2017.07.006)
- Liskova, P. et al. 2017. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmologica 95(4), pp. 363-369. (10.1111/aos.13285)
- Beirne, K., Rozanowska, M. and Votruba, M. 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion (10.1016/j.mito.2017.05.002)
- Karaa, A. et al. 2017. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease 40(3), pp. 403-414. (10.1007/s10545-017-0035-5)
- Liao, C. et al. 2017. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88(2), pp. 131-142. (10.1212/WNL.0000000000003491)
- Majander, A. et al. 2017. The pattern of retinal ganglion cell loss in OPA1-related autosomal dominant optic atrophy inferred from temporal, spatial, and chromatic sensitivity losses. Investigative Ophthalmology & Visual Science 58(1), pp. 502-516. (10.1167/iovs.16-20309)
2016
- Yu-Wai-Man, P., Votruba, M., Burté, F., La Morgia, C., Barboni, P. and Carelli, V. 2016. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132(6), pp. 789-806. (10.1007/s00401-016-1625-2)
- Kushnareva, Y., Seong, Y., Andreyev, A. Y., Kuwana, T., Kiosses, W. B., Votruba, M. and Newmeyer, D. D. 2016. Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Cell Death and Disease 7, article number: e2309. (10.1038/cddis.2016.160)
- Beirne, K., Rozanowska, M. and Votruba, M. 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92(4), pp. 624-631. (10.1111/php.12606)
- Navein, A. E. et al. 2016. Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity. Human Molecular Genetics 25(12), pp. 2404-2416. (10.1093/hmg/ddw107)
- Smith, T. G., Seto, S., Ganne, P. and Votruba, M. 2016. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function. Neuroscience 319, pp. 92-106. (10.1016/j.neuroscience.2016.01.042)
2015
- Morny, E. K. A., Margrain, T. H., Binns, A. M. and Votruba, M. 2015. Electrophysiological ON and OFF responses in autosomal dominant optic atrophy. Investigative Ophthalmology & Visual Science 56(13), pp. 7629-7637. (10.1167/iovs.15-17951)
- Pratyusha, G. and Votruba, M. 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93(7), pp. e598-e599. (10.1111/aos.12690)
- Ganne, P., Garrioch, R. and Votruba, M. 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36(1), pp. 50-57. (10.3109/13816810.2014.985845)
- Sergouniotis, P. I. et al. 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16(1), pp. 69-75. (10.1007/s10048-014-0416-y)
2014
- Morris, B. and Votruba, M. 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92(1), pp. e77. (10.1111/aos.12100)
- Rowe, F. et al. 2014. The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process. BMJ Open 4(7), article number: e004905. (10.1136/bmjopen-2014-004905)
- Yu-Wai-Man, P., Votruba, M., Moore, A. T. and Chinnery, P. F. 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28(5), pp. 521-537. (10.1038/eye.2014.37)
2013
- Bailie, M., Votruba, M., Griffiths, P. G., Chinnery, P. F. and Yu-Wai-Man, P. 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91(5), pp. e413-e414. (10.1111/aos.12077)
- Williams, P. A. et al. 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34(7), pp. 1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
- Liskova, P. et al. 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91(3), pp. 225-231. (10.1111/aos.12038)
- Smith, T. G. and Votruba, M. 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10(4), pp. 173-180. (10.1016/j.ddmod.2014.02.001)
- Perganta, G. et al. 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8(2), article number: e56350. (10.1371/journal.pone.0056350)
2012
- Wells, T. et al. 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21(22), pp. 4836-4844. (10.1093/hmg/dds315)
- Klionsky, D. J., Votruba, M. and and 1268 other authors, . 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8(4), pp. 445-544. (10.4161/auto.19496)
- Liao, C. et al. 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22(S1), pp. S3. (10.1016/S0960-8966(12)70003-2)
- Williams, P. . A., Piechota, M., Von Ruhland, C. J., Taylor, E., Morgan, J. E. and Votruba, M. 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135(2), pp. 493-505. (10.1093/brain/awr330)
- Chen, L. et al. 2012. OPA1 mutation and late-onset cardiomyopathy: Mitochondrial dysfunction and mtDNA instability. Journal of the American Heart Association, article number: e003012. (10.1161/JAHA.112.003012)
- Morris, B. and Votruba, M. 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90(7), article number: e568. (10.1111/j.1755-3768.2012.02387.x)
2011
- Powell, K. A., Davies, J. R., Taylor, E., Wride, M. A. and Votruba, M. 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52(7), pp. 4369-4380. (10.1167/iovs.10-6406)
- Barnard, A. R. et al. 2011. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy. Experimental Eye Research 93(5), pp. 771-777. (10.1016/j.exer.2011.07.004)
- Williams, P. A., Morgan, J. E. and Votruba, M. 2011. Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?. Vision Research 51(2), pp. 229-234. (10.1016/j.visres.2010.08.031)
- Hamblion, E. L., Moore, A. T., Rahi, J. S. and Votruba, M. 2011. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. British Journal of Ophthalmology 96(3), pp. 360-365. (10.1136/bjo.2010.201178)
2010
- Williams, P. A., Morgan, J. E. and Votruba, M. 2010. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133(10), pp. 2942-2951. (10.1093/brain/awq218)
- Yu-Wai-Man, P. et al. 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133(3), pp. 771-786. (10.1093/brain/awq007)
- Sheppard, J., Hayes, S., Boote, C., Votruba, M. and Meek, K. M. A. 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51(6), pp. 2936-2942. (10.1167/iovs.09-4612)
2009
- Yu-Wai-Man, P., Davies, V. J., Piechota, M., Cree, L. M., Votruba, M. and Chinnery, P. F. 2009. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50(10), pp. 4561-4566. (10.1167/iovs.09-3634)
- White, K. E., Davies, V. J., Hogan, V. E., Piechota, M., Nichols, P. P., Turnbull, D. M. and Votruba, M. 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50(6), pp. 2567-2571. (10.1167/iovs.08-2913)
2008
- Davies, V. J. et al. 2008. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131(2), pp. 368-380. (10.1093/brain/awm333)
2007
- Davies, V. J. et al. 2007. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Human Molecular Genetics 16(11), pp. 1307-1318. (10.1093/hmg/ddm079)
- Hayes, S. et al. 2007. Comparative Study of Fibrillar Collagen Arrangement in the Corneas of Primates and Other Mammals. The Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology 290(12), pp. 1542-1550. (10.1002/ar.20613)
2006
- Davies, V. J. and Votruba, M. 2006. Focus on molecules: the OPA1 protein. Experimental Eye Research 83(5), pp. 1003-1004. (10.1016/j.exer.2005.11.021)
2004
- Aijaz, S., Erskine, L., Jeffery, G., Bhattacharya, S. S. and Votruba, M. 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Investigative Ophthalmology and Visual Science 45(6), pp. 1667-1673. (10.1167/iovs.03-1093)
- Votruba, M. 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18(11), pp. 1126-1132. (10.1038/sj.eye.6701570)
2003
- Granse, L., Bergstrand, I., Thiselton, D., Ponjavic, V., Heijl, A., Votruba, M. and Andreasson, S. 2003. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene [Abstract]. Investigative Ophthalmology and Visual Science 44(S), pp. U446.
- Votruba, M., Thiselton, D. and Bhattacharya, S. S. 2003. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. British Journal of Ophthalmology 87(1), pp. 48-53.
- Aijaz, S., Bhattacharya, S. S. and Votruba, M. 2003. Expression profile of OPA1, the gene associated with autosomal dominant optic atrophy in the developing and adult mammalian retina [Abstract]. Investigative Ophthalmology and Visual Science 44(E-Abst)
- Votruba, M., Aijaz, S. and Moore, A. T. 2003. A review of primary hereditary optic neuropathies. Journal of Inherited Metabolic Disease 26(2-3), pp. 209-227. (10.1023/A:1024441302074)
2002
- Votruba, M., Hungerford, J., Cornes, P. G. S., Mabey, D. and Luthert, P. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86(12), pp. 1453-1454. (10.1136/bjo.86.12.1453)
- Aung, T. et al. 2002. A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene. Human Genetics 110(1), pp. 52-56. (10.1007/s00439-001-0645-7)
- Thiselton, D. L. et al. 2002. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 43(6), pp. 1715-1724.
2001
- Thiselton, D. L. et al. 2001. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Human Genetics 109(5), pp. 498-502. (10.1007/s004390100600)
- Gong, Y. Q. et al. 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107(4), pp. 513-523. (10.1016/S0092-8674(01)00571-2)
- Votruba, M. 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85(11), pp. 1394. (10.1136/bjo.85.11.1394)
- Votruba, M. and Gregor, Z. 2001. Neovascular age-related macular degeneration: present and future treatment options. Eye 15(3), pp. 424-429. (10.1038/eye.2001.147)
- Ocaka, L. et al. 2001. The gene responsibly for autosomal dominant optic atrophy, OPA1 is not associated with normal tension glaucoma [Abstract]. Investigative Ophthalmology and Visual Science 42(4), pp. S564.
- Bremner, F. D., Tomlin, E. A., Shallo-Hoffmann, J., Votruba, M. and Smith, S. E. 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42(3), pp. 675-678.
2000
- Alexander, C. et al. 2000. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [Letter]. Nature Genetics 26(2), pp. 211-215. (10.1038/79944)
- Votruba, M., Leary, S., Losseff, N., Bhattacharya, S. S., Moore, A. T., Miller, D. H. and Moseley, I. F. 2000. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 42(3), pp. 180-183. (10.1007/s002340050041)
1999
- Votruba, M. 1999. Clinical and functional features of patients with dominant optic atrophy - Reply. Archives of Ophthalmology 117(2), pp. 287-288.
1998
- Simunovic, M. P., Votruba, M., Regan, B. C. and Mollon, J. D. 1998. Colour discrimination ellipses in patients with dominant optic atrophy. Vision Research 38(21), pp. 3413-3419. (10.1016/S0042-6989(98)00094-7)
- Votruba, M., Moore, A. T. and Bhattacharya, S. S. 1998. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. Journal of Medical Genetics 35(10), pp. 793-800. (10.1136/jmg.35.10.793)
- Votruba, M., Payne, A., Moore, A. T. and Bhattacharya, S. S. 1998. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mammalian Genome 9(10), pp. 784-787. (10.1007/s003359900867)
- Votruba, M., Fitzke, F. W., Holder, G. E., Carter, A., Bhattacharya, S. S. and Moore, A. T. 1998. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Archives of Ophthalmology 116(3), pp. 351-358. (10.1001/pubs.Ophthalmol.-ISSN-0003-9950-116-3-eog7505)
- Votruba, M., Collins, C. M. P. and Harrad, R. A. 1998. The management of solitary trichoepithelioma versus basal cell carcinoma. Eye 12(1), pp. 43-46. (10.1038/eye.1998.7)
- Votruba, M., Moore, A. T. and Bhattacharya, S. S. 1998. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method - A study of 38 British Isles pedigrees. Human Genetics 102(1), pp. 79-86. (10.1007/s004390050657)
- Holder, G. E., Votruba, M., Carter, A. C., Bhattacharya, S. S., Fitzke, F. W. and Moore, A. T. 1998. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Documenta Ophthalmologica 95(3-4), pp. 217-228. (10.1023/A:1001844021014)
1997
- Votruba, M., Moore, A. T. and Bhattacharya, S. S. 1997. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. Journal of Medical Genetics 34(2), pp. 117-121. (10.1136/jmg.34.2.117)
1994
- Votruba, M. 1994. The case of the disappearing bullet [Letter]. Eye 8(1), pp. 143-144. (10.1038/eye.1994.28)
1993
- Sharma, A. and Votruba, M. 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77(10), pp. 681. (10.1136/bjo.77.10.681-a)
Erthyglau
- Cimaglia, G., Tribble, J. R., Votruba, M., Williams, P. A. and Morgan, J. E. 2024. Oral nicotinamide provides robust, dose-dependent structural and metabolic neuroprotection of retinal ganglion cells in experimental glaucoma. Acta Neuropathologica Communications 12, article number: 137. (10.1186/s40478-024-01850-8)
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- Thomas, R. H. et al. 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45(4), pp. 796-803. (10.1002/jimd.12521)
- Beirne, K., Freeman, T. J., Rozanowska, M. and Votruba, M. 2021. Red light irradiation in vivo upregulates DJ-1 in the retinal ganglion cell layer and protects against axotomy-related dendritic pruning. International Journal of Molecular Sciences 22(16), article number: 8380. (10.3390/ijms22168380)
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- Kim, D., Votruba, M. and Roy, S. 2021. Opa1 deficiency promotes development of retinal vascular lesions in diabetic retinopathy. International Journal of Molecular Sciences 22(11), article number: 5928. (10.3390/ijms22115928)
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- Varricchio, C., Beirne, K., Aeschlimann, P., Heard, C., Rozanowska, M., Votruba, M. and Brancale, A. 2020. Discovery of Novel 2-Aniline-1,4-naphthoquinones as potential new drug treatment for Leber’s hereditary optic neuropathy (LHON). Journal of Medicinal Chemistry 63(22), pp. 13638 -13655. (10.1021/acs.jmedchem.0c00942)
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- Meschede, I. P., Ovenden, N. C., Seabra, M. C., Futter, C. E., Votruba, M., Cheetham, M. E. and Burgoyne, T. 2020. Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1. Proceedings of the National Academy of Sciences 117(27), pp. 15684-15693., article number: 3. (10.1073/pnas.2000304117)
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- Mahajan, D. and Votruba, M. 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95(S259) (10.1111/j.1755-3768.2017.02682)
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- Beirne, K., Rozanowska, M. and Votruba, M. 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion (10.1016/j.mito.2017.05.002)
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- Yu-Wai-Man, P., Votruba, M., Burté, F., La Morgia, C., Barboni, P. and Carelli, V. 2016. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132(6), pp. 789-806. (10.1007/s00401-016-1625-2)
- Kushnareva, Y., Seong, Y., Andreyev, A. Y., Kuwana, T., Kiosses, W. B., Votruba, M. and Newmeyer, D. D. 2016. Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Cell Death and Disease 7, article number: e2309. (10.1038/cddis.2016.160)
- Beirne, K., Rozanowska, M. and Votruba, M. 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92(4), pp. 624-631. (10.1111/php.12606)
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- Smith, T. G., Seto, S., Ganne, P. and Votruba, M. 2016. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function. Neuroscience 319, pp. 92-106. (10.1016/j.neuroscience.2016.01.042)
- Morny, E. K. A., Margrain, T. H., Binns, A. M. and Votruba, M. 2015. Electrophysiological ON and OFF responses in autosomal dominant optic atrophy. Investigative Ophthalmology & Visual Science 56(13), pp. 7629-7637. (10.1167/iovs.15-17951)
- Pratyusha, G. and Votruba, M. 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93(7), pp. e598-e599. (10.1111/aos.12690)
- Ganne, P., Garrioch, R. and Votruba, M. 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36(1), pp. 50-57. (10.3109/13816810.2014.985845)
- Sergouniotis, P. I. et al. 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16(1), pp. 69-75. (10.1007/s10048-014-0416-y)
- Morris, B. and Votruba, M. 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92(1), pp. e77. (10.1111/aos.12100)
- Rowe, F. et al. 2014. The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process. BMJ Open 4(7), article number: e004905. (10.1136/bmjopen-2014-004905)
- Yu-Wai-Man, P., Votruba, M., Moore, A. T. and Chinnery, P. F. 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28(5), pp. 521-537. (10.1038/eye.2014.37)
- Bailie, M., Votruba, M., Griffiths, P. G., Chinnery, P. F. and Yu-Wai-Man, P. 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91(5), pp. e413-e414. (10.1111/aos.12077)
- Williams, P. A. et al. 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34(7), pp. 1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
- Liskova, P. et al. 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91(3), pp. 225-231. (10.1111/aos.12038)
- Smith, T. G. and Votruba, M. 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10(4), pp. 173-180. (10.1016/j.ddmod.2014.02.001)
- Perganta, G. et al. 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8(2), article number: e56350. (10.1371/journal.pone.0056350)
- Wells, T. et al. 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21(22), pp. 4836-4844. (10.1093/hmg/dds315)
- Klionsky, D. J., Votruba, M. and and 1268 other authors, . 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8(4), pp. 445-544. (10.4161/auto.19496)
- Liao, C. et al. 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22(S1), pp. S3. (10.1016/S0960-8966(12)70003-2)
- Williams, P. . A., Piechota, M., Von Ruhland, C. J., Taylor, E., Morgan, J. E. and Votruba, M. 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135(2), pp. 493-505. (10.1093/brain/awr330)
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- Morris, B. and Votruba, M. 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90(7), article number: e568. (10.1111/j.1755-3768.2012.02387.x)
- Powell, K. A., Davies, J. R., Taylor, E., Wride, M. A. and Votruba, M. 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52(7), pp. 4369-4380. (10.1167/iovs.10-6406)
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- Hamblion, E. L., Moore, A. T., Rahi, J. S. and Votruba, M. 2011. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. British Journal of Ophthalmology 96(3), pp. 360-365. (10.1136/bjo.2010.201178)
- Williams, P. A., Morgan, J. E. and Votruba, M. 2010. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133(10), pp. 2942-2951. (10.1093/brain/awq218)
- Yu-Wai-Man, P. et al. 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133(3), pp. 771-786. (10.1093/brain/awq007)
- Sheppard, J., Hayes, S., Boote, C., Votruba, M. and Meek, K. M. A. 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51(6), pp. 2936-2942. (10.1167/iovs.09-4612)
- Yu-Wai-Man, P., Davies, V. J., Piechota, M., Cree, L. M., Votruba, M. and Chinnery, P. F. 2009. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50(10), pp. 4561-4566. (10.1167/iovs.09-3634)
- White, K. E., Davies, V. J., Hogan, V. E., Piechota, M., Nichols, P. P., Turnbull, D. M. and Votruba, M. 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50(6), pp. 2567-2571. (10.1167/iovs.08-2913)
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- Davies, V. J. and Votruba, M. 2006. Focus on molecules: the OPA1 protein. Experimental Eye Research 83(5), pp. 1003-1004. (10.1016/j.exer.2005.11.021)
- Aijaz, S., Erskine, L., Jeffery, G., Bhattacharya, S. S. and Votruba, M. 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Investigative Ophthalmology and Visual Science 45(6), pp. 1667-1673. (10.1167/iovs.03-1093)
- Votruba, M. 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18(11), pp. 1126-1132. (10.1038/sj.eye.6701570)
- Granse, L., Bergstrand, I., Thiselton, D., Ponjavic, V., Heijl, A., Votruba, M. and Andreasson, S. 2003. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene [Abstract]. Investigative Ophthalmology and Visual Science 44(S), pp. U446.
- Votruba, M., Thiselton, D. and Bhattacharya, S. S. 2003. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. British Journal of Ophthalmology 87(1), pp. 48-53.
- Aijaz, S., Bhattacharya, S. S. and Votruba, M. 2003. Expression profile of OPA1, the gene associated with autosomal dominant optic atrophy in the developing and adult mammalian retina [Abstract]. Investigative Ophthalmology and Visual Science 44(E-Abst)
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- Votruba, M., Hungerford, J., Cornes, P. G. S., Mabey, D. and Luthert, P. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86(12), pp. 1453-1454. (10.1136/bjo.86.12.1453)
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- Gong, Y. Q. et al. 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107(4), pp. 513-523. (10.1016/S0092-8674(01)00571-2)
- Votruba, M. 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85(11), pp. 1394. (10.1136/bjo.85.11.1394)
- Votruba, M. and Gregor, Z. 2001. Neovascular age-related macular degeneration: present and future treatment options. Eye 15(3), pp. 424-429. (10.1038/eye.2001.147)
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- Bremner, F. D., Tomlin, E. A., Shallo-Hoffmann, J., Votruba, M. and Smith, S. E. 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42(3), pp. 675-678.
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- Votruba, M., Leary, S., Losseff, N., Bhattacharya, S. S., Moore, A. T., Miller, D. H. and Moseley, I. F. 2000. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 42(3), pp. 180-183. (10.1007/s002340050041)
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- Votruba, M., Fitzke, F. W., Holder, G. E., Carter, A., Bhattacharya, S. S. and Moore, A. T. 1998. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Archives of Ophthalmology 116(3), pp. 351-358. (10.1001/pubs.Ophthalmol.-ISSN-0003-9950-116-3-eog7505)
- Votruba, M., Collins, C. M. P. and Harrad, R. A. 1998. The management of solitary trichoepithelioma versus basal cell carcinoma. Eye 12(1), pp. 43-46. (10.1038/eye.1998.7)
- Votruba, M., Moore, A. T. and Bhattacharya, S. S. 1998. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method - A study of 38 British Isles pedigrees. Human Genetics 102(1), pp. 79-86. (10.1007/s004390050657)
- Holder, G. E., Votruba, M., Carter, A. C., Bhattacharya, S. S., Fitzke, F. W. and Moore, A. T. 1998. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Documenta Ophthalmologica 95(3-4), pp. 217-228. (10.1023/A:1001844021014)
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- Votruba, M. 1994. The case of the disappearing bullet [Letter]. Eye 8(1), pp. 143-144. (10.1038/eye.1994.28)
- Sharma, A. and Votruba, M. 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77(10), pp. 681. (10.1136/bjo.77.10.681-a)
- Pratyusha, G. and Votruba, M. 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93(7), pp. e598-e599. (10.1111/aos.12690)
- Ganne, P., Garrioch, R. and Votruba, M. 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36(1), pp. 50-57. (10.3109/13816810.2014.985845)
- Sergouniotis, P. I. et al. 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16(1), pp. 69-75. (10.1007/s10048-014-0416-y)
- Morris, B. and Votruba, M. 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92(1), pp. e77. (10.1111/aos.12100)
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- Yu-Wai-Man, P., Votruba, M., Moore, A. T. and Chinnery, P. F. 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28(5), pp. 521-537. (10.1038/eye.2014.37)
- Bailie, M., Votruba, M., Griffiths, P. G., Chinnery, P. F. and Yu-Wai-Man, P. 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91(5), pp. e413-e414. (10.1111/aos.12077)
- Williams, P. A. et al. 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34(7), pp. 1799-1806. (10.1016/j.neurobiolaging.2013.01.006)
- Liskova, P. et al. 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91(3), pp. 225-231. (10.1111/aos.12038)
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- Perganta, G. et al. 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8(2), article number: e56350. (10.1371/journal.pone.0056350)
- Wells, T. et al. 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21(22), pp. 4836-4844. (10.1093/hmg/dds315)
- Klionsky, D. J., Votruba, M. and and 1268 other authors, . 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8(4), pp. 445-544. (10.4161/auto.19496)
- Liao, C. et al. 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22(S1), pp. S3. (10.1016/S0960-8966(12)70003-2)
- Williams, P. . A., Piechota, M., Von Ruhland, C. J., Taylor, E., Morgan, J. E. and Votruba, M. 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135(2), pp. 493-505. (10.1093/brain/awr330)
- Chen, L. et al. 2012. OPA1 mutation and late-onset cardiomyopathy: Mitochondrial dysfunction and mtDNA instability. Journal of the American Heart Association, article number: e003012. (10.1161/JAHA.112.003012)
- Morris, B. and Votruba, M. 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90(7), article number: e568. (10.1111/j.1755-3768.2012.02387.x)
- Powell, K. A., Davies, J. R., Taylor, E., Wride, M. A. and Votruba, M. 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52(7), pp. 4369-4380. (10.1167/iovs.10-6406)
- Barnard, A. R. et al. 2011. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy. Experimental Eye Research 93(5), pp. 771-777. (10.1016/j.exer.2011.07.004)
- Williams, P. A., Morgan, J. E. and Votruba, M. 2011. Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?. Vision Research 51(2), pp. 229-234. (10.1016/j.visres.2010.08.031)
Research
Research Interests
My research focus is on the role of mitochondria in the pathophysiology of neurodegenerative disease. My focus has been inherited optic neuropathy, with an emphasis on generating model systems to study retinal ganglion cell (RGC) loss and inner retinal degeneration, which occurs as a primary phenomenon in a number of human genetic diseases.
We are studying RGC loss and rescue in vitro and in vivo, and the sequelae of this neurodegeneration on inner retina. To this end, we have been utilising retinal ganglion cell lines and primary RGCs, to explore the effect of mitochondrial fusion and fission genes on cell viability and the mechanism of cell death. We are also exploring the role of neuroprotective agents. OPA1 is known to bind to the inner mitochondrial membrane, and when mutated it is believed that the normal balance of mitochondrial fusion and fission is disturbed and programmed cell death is initiated by the loss of mitochondrial membrane potential and the release of cytochrome c. We are also investigating the role of the OPA3 gene in both RGC loss and cataract formation. OPA3, like OPA1, is thought to have a role in mitochondrial membrane dynamics, and when mutated in the human, a complex neurodegenerative disease, comprising optic neuropathy secondary to RGC loss, cataract and neuromuscular degeneration, arises.
Current clinical trial recruitment
A prospective natural history study of patients with autosomal dominant optic atrophy (FALCON). Sponsor Stoke Therpaeutics STK-001
An Open-label Study to Investigate the Safety, Tolerability, and Exposure of Single Ascending Doses of the Antisense Oligonucleotide STK-002 in Patients with Autosomal Dominant Optic Atrophy (OSPREY). Sponsor Stoke Therpaeutics STK-002 Phase 1 ADOA
Global Patient Registry of Inherited Retinal Diseases EYE-RD Registry. Sponsor Janssen Research & Development LLC
For all patient trial recruitment please contact votrubam@cf.ac.uk or hayley.westwood@wales.nhs.uk
Current Postgraduate Research Students
2021-2024 Mariia Grudina, Primary supervisor Marcela Votruba. Co-supervisors Ben Mead & Malgorzata Rozanowska. Title: "Human induced pluripotent stem cell models for the study and treatment of mitochondrial optic neuropathies".
2021-2024 Turkish Scholarship. Esmahan Durmez, co-supervisor with Ben Mead. Title: "Therapeutic testing of exosomes for retinal disease".
2022-2025 International Glaucoma Association Studentship. Matyas Kutnyanszky. Title: "Exosomes for glaucoma therapeutics".
Research Alumni
Post- doctoral Research Associates
- Dr Vanessa Davies
- Dr Ruby Grewel
- Dr Andrew Hollins
- Dr Kate Powell
- Dr Terry Smith
- Dr Kathy Beirne
- Dr Carmine Varrachio
- Dr Irina Erchova
- Dr Dinesh Kumar Kandaswamy, Newton International Fellow
- Dr Matthieu Trigano
- Dr Thomas Freeman
- Dr Gloria Cimaglia
- Dr Wyn Firth
Technical Assistants
- Elaine Taylor
- Sharon Seto
- Pascale Aeschlimann
Former PhD Students
- Dr Jack Sheppard
- Dr Gosia Piechota
- Dr Jennifer Davies
- Professor Pete Williams
- Dr Carolyn Walker
- Dr Kathy Beirne
- Dr Carmine Varricchio
- Dr Shanshan Sun
- Dr Gloria Cimaglia
Professional Training Scheme
- Rebecca Thirgood
EVER Foundation Fellows
- Dr Pratyusha Ganne BM BCh FRCOphth
- Dr Deepti Mahajan MD FRCOphth
Summer Students
Dr Marrios Sarros MD, Dr Costas Karabatsas MD, Yip Wan Fen NSc, Laura Byrne, Amanda Mui, Rebecca Watts, Roshini Joseph, Oliver Coppleston, Christopher Man, Kestutis Satkus
Recent & current grant funding
2024-2025 BMA Dawkins & Strutt Research Grant. Votruba M. "Mitochondrial transfer in optic neuropathy".
2023-2026 Fight for Sight Project Grant. Votruba M, Morgan J, Mead B, Rozanowska M. "RGC structure and mitochondrial function in LHON: the paradox of recovery and an extended therapeutic window.”
2019-2022 Academy of Medical Sciences Newton International Fellowship. Host M Votruba. Fellow Dinesh Kumar Kandaswamy. “Near-infrared light therapy as a therapeutic regimen for inherited optic neuropathy.”
2019-2022 Fight for Sight Studentship. Morgan JE, Votruba M, Williams P. “NAD therapy in glaucoma”.
2020-2022 National Eye Research Centre Project Grant. “Sustained release formulations for new drugs in the treatment of mitochondrial optic neuropathies.” Votruba M, Brancale A, Rozanowska M and Heard C.
2019-2020 Wellcome Trust ISSF3 Consolidator Award. C Varrachio. M Votruba, Sponsor B Newlands.
2019-2020 Wellcome Trust ISSF3 Cross-Disciplinary Award. Light for Sight – neuroprotection in mitochondrial optic neuropathy. M Votruba, M Rozanowska, J Hicks, S Armstrong.
Research Collaborators
International
Professor Pete Williams, Assistant Professor, Dept. of Clinical Neuroscience, Section of Ophthalmology and Vision, Karolinska Institute, Stockholm
Professor Anne A. Knowlton, M.D., Professor of Medicine and Medical Pharmacology, Molecular & Cellular Cardiology, the University of California, Davis, California, USA.
Professor Don Newmeyer, Ph.D., La Jolla Institute for Allergy and Immunology, La Jolla, CA, USA.
Professor Peter Nuernberg, Ph.D., Cologne Centre for Genomics, University of Cologne, Germany.
Professor Sayan Roy, Ph.D., FARVO, Professor of Medicine, Section of Diabetes, Endocrinology & Nutrition & Professor of Ophthalmology, Boston University School of Medicine, USA.
National
Professor Patrick Yu-Wai-Man, MRC Clinician Scientist, Mitochondrial Research Group, The University of Cambridge and UCL, Moorfields Eye Hospital
Professor Ron Douglas, Professor of Visual Science: Deputy Head of Department, City University London
Professor Jo Poulton, Ph.D. MRCP, Professor of Mitochondrial Genetics, John Radcliffe Hospital, University of Oxford
Professor Tim Wells, Ph.D., School of Bioscience, Cardiff University.
Dr Ben Newland Ph.D., Welsh School of Pharmacy and Pharmaceutical Sciences, Cardiff University
Teaching
Undergraduate and Postgraduate Optometry Teaching
I lecture and examine final-year optometry students on abnormal ocular conditions, and final-year research projects.
I supervise MSc projects for optometrists.
Postgraduate Teaching in Ophthalmology
I participate in postgraduate teaching in ophthalmology at the University Hospital, Wales.
Biography
I am a clinically qualified and clinically active Professor of Ophthalmology at Cardiff University School of Optometry & Vision Sciences and an Honorary Consultant Ophthalmologist at the University Hospital of Wales, Cardiff. Since 2020 I have been Visiting Researcher, at Karolinska Institutet, Stockholm, and since 2019 Visiting Professor at Charles University, Prague, Czech Republic, and an Honorary member of the Scientific Board of the First Faculty of Medicine, Charles University, Prague.
I was awarded a Personal Chair at Cardiff University in 2011, having been Senior Lecturer there since 2003. I came to Cardiff from UCL with a Clinician Scientist Fellowship from the MRC, with personal funding and funding for a research associate for four years. Prior to this, I was a Consultant in Medical Retina, at Moorfields Eye Hospital, London, UK in 2003 and a Visiting Researcher, at the National Eye Institute, National Institutes of Health, USA, in 2002. I was a fellow to Professor Paul Sieving, in 2002- first in Michigan, Ann Arbor at the Kellogg Eye Centre, and then at the National Eye Institute, National Institutes of Health, Bethesda. I completed my specialty and supra-specialty training in ophthalmology and ophthalmic genetics in 2000 and was awarded my certificate of completion of training. I was a clinical fellow under the guidance of Professors Tony Moore and Alan Bird and trained in medical retina and genetics at a world-leading center. My fellowship of the Royal College of Ophthalmology (FRCOphth) was awarded in 1992. I studied Physiological Sciences at The Queen’s College, Oxford (BA, MA Hons 2:1, 1984/ 1987), where I was awarded an Open Scholarship in 1981. My Medical degree was at Green College, Oxford (BM BCh, 1987).
Honours and awards
Distinguished Fellowships
2017 Elected Fellow of the Learned Society of Wales
2019 Visiting Professor at Charles University, Prague, Czech Republic
2023 Honorary member of the Scientific Board of the First Faculty of Medicine, Charles University, Prague, Czech Republic.
Research Fellowships
1994 Guide Dogs for the Blind Association Research Fellowship
1998 Wellcome Trust Vision Research Training Fellowship
2002 Frost Research Fellowship
2003 MRC Clinician Scientist Fellowship
Postgraduate Prizes
1996 The Royal Society of Medicine: Ophthalmology Section-Registrars’ Meeting: First Prize (Awarded for the Best Paper at Annual Training Meeting)
Undergraduate Distinctions
1981 Open Scholarship, The Queen’s College, Oxford
1984 First Class Hons. Dissertation, Oxford University
1987 Final Year Clinical Prize: Green College, Green College, Oxford
Professional memberships
Memberships, Affiliations and Societies
European Vision Institute (EVI)
European Paediatric Ophthalmology Society (EPOS)
British Eye Study Group (BESG)
UK Eye Genetics Group (UK EGG)
European Retina, Macula and Vitreous Society (EuroRetina)
Association for Research in Vision & Ophthalmology (ARV0)
International Society of Eye Research (ISER)
European Association for Vision & Eye Research (EVER)
European Society Human Genetics (ESHG)
The Oxford Ophthalmological Congress (OOC)
International Society for Genetic Eye Disease (ISGED)
Academic positions
Present Substantive Appointment
Professor of Ophthalmology, Cardiff University and Consultant in Ophthalmology, Cardiff & Vale NHS Trust, University Hospital Wales
Previous Substantive Appointments
Jan 2014- Dec 2019 Head of School of Optometry & Vision Sciences, Cardiff University
Aug 2011 - Dec 2013 Professor and Honorary Consultant in Ophthalmology, Cardiff University and The Cardiff & Vale NHS Trust, University Hospital of Wales
Oct 2007 - July 2011 Honorary Consultant Senior Lecturer, Cardiff University and The Cardiff & Vale NHS Trust, University Hospital of Wales.
Oct 2003 - Sep 2007 MRC Clinician Scientist Fellow & Honorary Consultant Senior Lecturer, Cardiff University and The University Hospital of Wales
Apr 2003 - Oct 2003 Consultant in Medical Retina, Moorfields Eye Hospital, London & Service Lead for Audit & Clinical Governance & Service Lead for ARMD Research
Other Appointments
2019 -ongoing Visiting Professor, Charles University Prague, Czech Republic
2002 Visiting Research Scholar, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
Committees and reviewing
Grant advisory panels
- 2020-2023 Deputy Chair, Fight for Sight Grant Advisory Panel, UK
- 2015 – 2020 Member Grant Advisor Panel, National Eye Research Centre, UK
- 2017– 2022 Member Grant Advisory Board, RP Fighting Blindness/ Retina UK
- 2012 – 2017 Member Grant Advisory Panel, Fight for Sight, UK
Leadership roles in learned societies or professional bodies
- 2019-2023 Secretary General, European Association for Vision and Eye Research.
- 2019-2023 Representative for European Association for Vision & Eye Research on EU-EYE Board and on the EVERfoundation Board, and on the TRANSFORM Alliance.
- 2018- 2020 Invited Member of the James Lind Alliance Priority Setting Partnership Steering Board: “Rare Mitochondrial Diseases”.
- 2016 - 2018 National Ophthalmology Specialty Lead for Wales.
- 2016 - 2018 Member of the UK Specialty Lead Panel for Ophthalmology Trials.
- 2014 - 2017 Member of the VISION 2020 UK Eye Research Committee.
- 2012- 2014 Lead Principal Investigator and Co-ordinator of the MRC Mouse Eyes & Vision Consortium.
- 2012 - 2017 Member Steering Committee, UK Eye Genetics Group.
- 2012 - 2013 Royal College of Ophthalmologists Representative on James Lind Alliance Priority Setting Partnership Steering Committee: “Sight Loss and Vision”.
- 2013 Invited Faculty Member, European Neuromuscular Consortium, Naarden, Holland.
- 2011 - 2016 Programme Secretary, European Association for Vision and Eye Research.
- 2009 - 2010 Vice President, European Association for Vision and Eye Research.
- 2004 - 2009 Section Chair for Molecular Biology/ Genetics/ Epidemiology, Board of European Association for Vision and Eye Research (EVER).
Editorships of journals
- 2013- present: Associate Editor, Editorial Board of Acta Ophthalmologica,
- 2020- present: Associate Editor Therapeutic Advances in Rare Disease
Guest editorships of books or special editions of journals
- 2013 Guest Editor for Drug Discovery Today: Disease Models
Other examples of leadership in the academic community
- 2008 & 2011 Jury member, Belgian Ophthalmology Research Prize.
- 2004 & 2009 Jury member, College of Ophthalmologists Research Prize.
Leadership roles in industry
- Expert Panel Member, Novartis Gene Therapy for RPE65 Leber’s congential amaurosis, London 2018
- Expert Panel Member, Chair and Invited Speaker at Mitochonrial optic neuropathies“, Santhera Pharmaceuticals, Prague, 2019
Review of papers for scientific journals
I regularly review papers for scientific journals, including ophthalmology and neuroscience journals- Brain, Investigative Ophthalmology & Vision Science, Archives of Ophthalmology, The British Journal of Ophthalmology, Eye, Ophthalmic Research, Neuro-ophthalmology, Acta Ophthalmologica and Experimental Eye Research and genetics journals- Human Molecular Genetics, American Journal of Human Genetics, Journal of Medical Genetics, Human Genetics, European Journal of Human Genetics and Ophthalmic Genetics.
I also regularly review Grant Applications for national bodies- The MRC, The Wellcome Trust, Fight for Sight, The Macular Disease Society, The Guide Dogs for the Blind Association, The Iris Fund, the National Eye Research Center and international bodies, including, the Swiss National Science Foundation and Association Francaise contre les Myopathies.
Supervisions
Current students
2019-2023
Fight for Sight Studentship Gloria Cimaglia, co-supervisor with James Morgan and Pete Williams. Title: “NAD in glaucoma neuroprotection”.
2021-2024
Mariia Grudina, Primary supervisor Marcela Votruba. Co-supervisors Ben Mead & Malgorzata Rozanowska. Title: "Human induced pluripotent stem cell models for the study and treatment of mitochondrial optic neuropathies".
2021-2024
Turkish Scholarship. Esmahan Durmez, co-supervisor with Ben Mead. Title: ""Therapeutic testing of exosomes for retinal disease".
I am interested in supervising PhD students in the areas of:
- Role of mitochondria in neurodegeneration
- Novel therapies for mitochondrial optic neuropathies
- iPS cells for the testing of novel therapy of mitochondrial dysfunction
- Mitochondrial damage in age related macular degeneration
- Quality of life in patients with inherited retinal and optic nerve disease, utility of novel therapies
Current supervision
Contact Details
+44 29208 70117
Optometry and Vision Sciences, Room Room 2.30, Maindy Road, Cathays, Cardiff, CF24 4HQ
Main Hospital Building, Room Ophthalmology Clinic, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN
Research themes
Specialisms
- Mitochondria
- Ophthalmology
- Molecular biology
- Gene and molecular therapy
- clinical trials
