{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:41:26Z","timestamp":1790710886562,"version":"4.1.0"},"reference-count":109,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T00:00:00Z","timestamp":1611273600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012618","name":"National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology","doi-asserted-by":"publisher","award":["Academic Clinical Lectureship"],"award-info":[{"award-number":["Academic Clinical Lectureship"]}],"id":[{"id":"10.13039\/501100012618","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic diseases with a final common pathway of mitochondrial dysfunction leading to retinal ganglion cell (RGC) death and ultimately loss of vision. They are, therefore, excellent models with which to investigate this ubiquitous disease process\u2014implicated in both common polygenetic ocular diseases (e.g., Glaucoma) and late-onset central nervous system neurodegenerative diseases (e.g., Parkinson disease). In recent years, cellular and animal models of LHON and DOA have matured in parallel with techniques (such as RNA-seq) to determine and analyze the transcriptomes of affected cells. This confluence leaves us at a particularly exciting time with the potential for the identification of novel pathogenic players and therapeutic targets. Here, we present a discussion of the importance of inherited optic neuropathies and how transcriptomic techniques can be exploited in the development of novel mutation-independent, neuroprotective therapies.<\/jats:p>","DOI":"10.3390\/genes12020147","type":"journal-article","created":{"date-parts":[[2021,1,22]],"date-time":"2021-01-22T11:13:53Z","timestamp":1611314033000},"page":"147","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["From Transcriptomics to Treatment in Inherited Optic Neuropathies"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4109-5336","authenticated-orcid":false,"given":"Michael James","family":"Gilhooley","sequence":"first","affiliation":[{"name":"Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London EC1V 2PD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5598-6274","authenticated-orcid":false,"given":"Nicholas","family":"Owen","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-5360","authenticated-orcid":false,"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London EC1V 2PD, UK"},{"name":"The Francis Crick Institute, 1 Midland Road, Somers Town, London NW1 1AT, UK"},{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Yu Wai Man","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London EC1V 2PD, UK"},{"name":"Department of Clinical Neurosciences, University of Cambridge, Robinson Way, Cambridge CB2 0PY, UK"},{"name":"MRC Mitochondrial Biology Unit, University of Cambridge, Robinson Way, Cambridge CB2 0PY, UK"},{"name":"Cambridge Eye Unit, Addenbrooke\u2019s Hospital, Hills Road, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Liew, G., Michaelides, M., and Bunce, C. 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