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Foundation for Optic Nerve Disease (IFOND)","award":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"],"award-info":[{"award-number":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"]}]},{"name":"NIHR as part of the Rare Diseases Translational Research Collaboration, the NIHR Cambridge Biomedical Research Centre","award":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"],"award-info":[{"award-number":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"]}]},{"name":"NIHR Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology","award":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"],"award-info":[{"award-number":["CL-2019-18-004","SGL023\\1051","GR001207","SEE 006","Pro-Re\/Projekt\/Gilhooley-Whitehead-Lindner.04-2021","205174\/Z\/16\/Z","NIHR301696","GR001376","BRC-1215-20014"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of early and expedient molecular diagnoses, particularly in the paediatric population. Here, we report our real-world clinical experience of such a population, exploring which children presented with the condition, how they were investigated and the time taken for a molecular diagnosis to be reached. A retrospective case-note review of paediatric inherited optic neuropathy patients (0\u201316 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 \u00b1 4.6 (mean \u00b1 SD) years at presentation; 68% were male, and 32% were female; and 26% had comorbidities, with diversity of ethnicity. Most patients had undergone genetic testing (95% (n = 18)), of whom 43% (n = 8) received a molecular diagnosis. On average, this took 54.8 \u00b1 19.5 weeks from presentation. A cerebral MRI was performed in 70% (n = 14) and blood testing in 75% (n = 15) of patients as part of their workup. Continual improvement in the investigative pathways for inherited optic neuropathies will be paramount as novel therapeutics become available.<\/jats:p>","DOI":"10.3390\/genes15020188","type":"journal-article","created":{"date-parts":[[2024,1,30]],"date-time":"2024-01-30T05:14:32Z","timestamp":1706591672000},"page":"188","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic"],"prefix":"10.3390","volume":"15","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, 11 Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital, 162, City Road, London EC1V 2PD, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naz","family":"Raoof","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital, 162, City Road, London EC1V 2PD, UK"},{"name":"The Royal London Hospital, Barts Health NHS Trust, Whitechapel Road, London E1 1BB, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7847-9320","authenticated-orcid":false,"given":"Patrick","family":"Yu-Wai-Man","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital, 162, City Road, London EC1V 2PD, UK"},{"name":"Addenbrooke\u2019s Hospital, Hills Road, Cambridge CB2 0QQ, UK"},{"name":"Mitochondrial Biology Unit, MRC and Cambridge Centre for Brain Repair, Cambridge University, Forvie Way, Cambridge CB2 0QQ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, 11 Bath Street, London EC1V 9EL, UK"},{"name":"Moorfields Eye Hospital, 162, City Road, London EC1V 2PD, UK"},{"name":"Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1016\/S0140-6736(03)14631-4","article-title":"Severe visual impairment and blindness in children in the UK","volume":"362","author":"Rahi","year":"2003","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1097\/IIO.0b013e31825a14ba","article-title":"Pediatric Optic Atrophy","volume":"52","author":"Vaphiades","year":"2012","journal-title":"Int. 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