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Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic

Gilhooley, Michael James; Raoof, Naz; Yu-Wai-Man, Patrick; Moosajee, Mariya; (2024) Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic. Genes , 15 (2) , Article 188. 10.3390/genes15020188. Green open access

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Abstract

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 (0-16 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 ± 4.6 (mean ± 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 ± 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.

Type: Article
Title: Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
Location: Switzerland
Open access status: An open access version is available from UCL Discovery
DOI: 10.3390/genes15020188
Publisher version: http://dx.doi.org/10.3390/genes15020188
Language: English
Additional information: Copyright: © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/).
Keywords: Leber hereditary optic neuropathy, dominant optic atrophy, optic neuropathy, paediatric, Humans, Male, Female, Child, Child, Preschool, Adolescent, Optic Atrophy, Hereditary, Leber, Optic Atrophy, Autosomal Dominant, Retrospective Studies, Ophthalmology, Optic Nerve Diseases
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10188217
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