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1.
Cell Rep Med ; 5(3): 101437, 2024 Mar 19.
Article En | MEDLINE | ID: mdl-38428428

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. Idebenone has been shown to be effective in stabilizing and restoring vision in patients treated within 1 year of onset of vision loss. The open-label, international, multicenter, natural history-controlled LEROS study (ClinicalTrials.gov NCT02774005) assesses the efficacy and safety of idebenone treatment (900 mg/day) in patients with LHON up to 5 years after symptom onset (N = 199) and over a treatment period of 24 months, compared to an external natural history control cohort (N = 372), matched by time since symptom onset. LEROS meets its primary endpoint and confirms the long-term efficacy of idebenone in the subacute/dynamic and chronic phases; the treatment effect varies depending on disease phase and the causative mtDNA mutation. The findings of the LEROS study will help guide the clinical management of patients with LHON.


Optic Atrophy, Hereditary, Leber , Ubiquinone/analogs & derivatives , Humans , Optic Atrophy, Hereditary, Leber/drug therapy , Optic Atrophy, Hereditary, Leber/genetics , Optic Atrophy, Hereditary, Leber/diagnosis , Antioxidants/therapeutic use , Ubiquinone/therapeutic use , Ubiquinone/genetics , Mutation
2.
Br Ir Orthopt J ; 19(1): 7-14, 2023.
Article En | MEDLINE | ID: mdl-36909675

Introduction: Neuro-ophthalmology is experiencing increasing demand. There is a lack of literature relating to how we deal with the capacity and demand issues, and the use of virtual clinics. Virtual clinics are well-recognised in other subspecialties to help deal with capacity and demand issues, with reports of non-medical-led clinics, and are supported by the National Health Services Long Term Plan and People Plan. We present a quality assurance audit of our orthoptic-led neuro-ophthalmology virtual clinic. Methods: The virtual clinic was developed in October 2014 to help deal with capacity and demand issues, however, only since 2019 have orthoptists been trained to virtually review. This paper provides a summary of a quality assurance audit that was completed to determine concurrence between orthoptic and consultant virtual reviews. Results: From January to August 2021, all patients attending the virtual clinic were reviewed by a trained orthoptist and then audited for concordance by a consultant neuro-ophthalmologist; 163 patients were identified. There was 100% agreement between orthoptic reviewers and consultants regarding visual function status and optical coherence tomography interpretation. Of the patients reviewed, 100% of patients were satisfied and 96% of patients would be happy to be seen in the virtual clinic again. Conclusions: Current demands on the neuro-ophthalmology speciality mean that we need to explore new ways of working. Our outcomes demonstrate a high level of agreement between orthoptists and ophthalmologists, and excellent patient satisfaction results. We hope this highlights where orthoptists can play an invaluable role in the care of neuro-ophthalmic patients and help deal with capacity and demand issues.

4.
Orbit ; 27(4): 309-12, 2008.
Article En | MEDLINE | ID: mdl-18716971

An unusual case of an orbital teratoma presenting as recurrent orbital cellulitis in a 2-year-old child. Imaging studies demonstrated an extraconal mass with a bony defect and a malformation of the sphenoid. An ectopic tooth was also present. Malformation and defects in the sphenoid have not been previously reported in association with intraorbital teratoma. Attention is drawn to the need for imaging in children presenting with orbital infections in order to exclude an intraorbital mass.


Choristoma/diagnosis , Orbital Cellulitis/diagnosis , Orbital Neoplasms/pathology , Sphenoid Bone/abnormalities , Teratoma/pathology , Tooth , Child, Preschool , Choristoma/surgery , Female , Humans , Magnetic Resonance Imaging , Orbital Cellulitis/surgery , Orbital Diseases/diagnosis , Orbital Diseases/surgery , Orbital Neoplasms/surgery , Recurrence , Sphenoid Bone/pathology , Sphenoid Bone/surgery , Teratoma/surgery , Tomography, X-Ray Computed
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