Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
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 emphas...
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| Format: | Article |
| Language: | English |
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MDPI AG
2024-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/2/188 |
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| author | Michael James Gilhooley Naz Raoof Patrick Yu-Wai-Man Mariya Moosajee |
| author_facet | Michael James Gilhooley Naz Raoof Patrick Yu-Wai-Man Mariya Moosajee |
| author_sort | Michael James Gilhooley |
| collection | DOAJ |
| description | 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% (<i>n</i> = 18)), of whom 43% (<i>n</i> = 8) received a molecular diagnosis. On average, this took 54.8 ± 19.5 weeks from presentation. A cerebral MRI was performed in 70% (<i>n</i> = 14) and blood testing in 75% (<i>n</i> = 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. |
| first_indexed | 2024-03-07T22:31:36Z |
| format | Article |
| id | doaj.art-5861452d3a3c491caf17fc6e6c61f723 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-07T22:31:36Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-5861452d3a3c491caf17fc6e6c61f7232024-02-23T15:17:46ZengMDPI AGGenes2073-44252024-01-0115218810.3390/genes15020188Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology ClinicMichael James Gilhooley0Naz Raoof1Patrick Yu-Wai-Man2Mariya Moosajee3Institute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UKInstitute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UKInstitute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UKInstitute of Ophthalmology, University College London, 11 Bath Street, London EC1V 9EL, UKInherited 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% (<i>n</i> = 18)), of whom 43% (<i>n</i> = 8) received a molecular diagnosis. On average, this took 54.8 ± 19.5 weeks from presentation. A cerebral MRI was performed in 70% (<i>n</i> = 14) and blood testing in 75% (<i>n</i> = 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.https://www.mdpi.com/2073-4425/15/2/188optic neuropathypaediatricLeber hereditary optic neuropathydominant optic atrophy |
| spellingShingle | Michael James Gilhooley Naz Raoof Patrick Yu-Wai-Man Mariya Moosajee Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic Genes optic neuropathy paediatric Leber hereditary optic neuropathy dominant optic atrophy |
| title | Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic |
| title_full | Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic |
| title_fullStr | Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic |
| title_full_unstemmed | Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic |
| title_short | Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic |
| title_sort | inherited optic neuropathies real world experience in the paediatric neuro ophthalmology clinic |
| topic | optic neuropathy paediatric Leber hereditary optic neuropathy dominant optic atrophy |
| url | https://www.mdpi.com/2073-4425/15/2/188 |
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