Treatment of Leber’s hereditary optic neuropathy: An overview of recent developments

Zuccarelli, Marta; Vella-Szijj, Janis; Serracino‐Inglott, Anthony; Borg, John-Joseph

doi:10.1177/1120672120936592

Cited by 23 publications

(21 citation statements)

References 19 publications

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“…There is currently no proven treatment for LHON or DOA [20]. Notwithstanding, Raxone (idebenone) is the only available medicinal product authorized to treat LHON within the European Union to control this condition, yet, LHON remains an unmet medical need [21]. Regardless of these treatments perplex of ONA, studies shows that acupuncture has some significance as a non-drug treatment of optic nerve atrophy.…”

Section: Treatment Perplexmentioning

confidence: 99%

Acupuncture Therapy for the Treatment of Optic Nerve Atrophy

Karnwhine¹,

Yu²,

Li³

2022

OJOph

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Objective: Optical Nerve Atrophy is one of the most common causes of blindness worldwide. The condition is linked to several pathologies, which contribute to the damage of the optic nerve. The presence of a tumor on the optic nerve, improper formation of the optic nerve, glaucoma, hereditary and central nervous system diseases, and anterior ischemic optic neuropathy promote deterioration of the optic nerve. The purpose of this review is to examine the efficacy of acupuncture therapy for ONA. Method: Clinical trials (case control-trials), and randomized control trials (RCTs) were assessed to observe the efficacy of acupuncture as well as the safety of acupuncture, needling manipulation, and acupoints selection. The data collected in this research include scientific research papers from China National Knowledge Infrastructure (CNKI), PUBMED library, National Library of Medicine (NLM), EMBASE, Cochrane Library, Chinese Biomedical Literature Database, and other literature library date present. Ophthalmoscope, OCT, pupils test, ocular alignment, nystagmus, and visual acuity check were the diagnostic tools used for ONA in the included study. ONA treatment has been a challenge to ophthalmologists over the past decades. At present, western approaches have no fixed treatment mechanism for the condition. Early diagnosis, the use of magnifying lenses, and reduction of increased fluid around the spinal cord and brain are the multiple disciplinary approaches used in western medicine for ONA. On the other hand, Acupuncture, a branch of traditional Chinese medicine, which stimulates the body's natural healing ability to promote physical and emotional well-being, has reported some significant treatment effects for ONA. Result: The overall result shows that Acupuncture greatly improved patients' visual acuity, visual field, and visual function in the included study. Acupuncture acting alone showed significant superiority over other treatments for optical nerve atrophy. Acupuncture combined with medication could improve a

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Section: Treatment Perplexmentioning

confidence: 99%

Acupuncture Therapy for the Treatment of Optic Nerve Atrophy

Karnwhine¹,

Yu²,

Li³

2022

OJOph

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“…In some cases, however, loss of vision is not definitive. A proportion of LHON patients (<20 %, all genotypes combined) experiences spontaneous visual recovery up to typical visual acuity levels a few years after disease onset ( Carelli et al, 2019 , Zuccarelli et al, 2020 ). A recent meta -analysis by Newman et al (2020) , which combined results from 12 prospective and 3 retrospective studies for a total of 695 LHON patients, all harbouring the m.G11778A variant, revealed that about 14 % of these patients presented a history of visual recovery, although some may be due to idebenone use.…”

Section: Introductionmentioning

confidence: 99%

“…A recent meta -analysis by Newman et al (2020) , which combined results from 12 prospective and 3 retrospective studies for a total of 695 LHON patients, all harbouring the m.G11778A variant, revealed that about 14 % of these patients presented a history of visual recovery, although some may be due to idebenone use. Most frequent recovery has been observed in those carrying the relatively rare m.T14484C variant (∼40–70 % of recovery cases; Carelli et al, 2019 , Zuccarelli et al, 2020 ), raising the question of why spontaneous recovery is less frequent in patients with the G11778A variant compared to those with rarer forms of LHON. Visual recovery can also be achieved via the use of idebenone, which is the only approved treatment for LHON to date.…”

Section: Introductionmentioning

confidence: 99%

Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

Chow-Wing-Bom

Callaghan

Wang

et al. 2022

NeuroImage: Clinical

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“…Leber hereditary optic neuropathy (LHON) is a maternally inherited, mitochondrial disorder characterized by bilateral, acute, or sub-acute, painless loss of central vision typically presenting between 15 and 35 years of age. [ 2 3 ] Males are predominantly affected but the disorder may also be seen in females, though rarely (males-to-female ratio = 3:1). [ 3 4 ] A definitive diagnosis requires meticulous exclusion of acquired inflammatory, infective, compressive, toxic, and nutritional causes supplanted by a genetic study.…”

Section: Introductionmentioning

confidence: 99%

Clinical profile of patients with leber hereditary optic neuropathy (LHON): An ambispective study of North Indian Cohorts

Vinny¹,

Kaur²,

Singh³

et al. 2022

Ann Indian Acad Neurol

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Background: Leber hereditary optic neuropathy (LHON) is a maternally inherited disease resulting in irreversible visual loss usually in patients belonging to the age group of 15–35 years. Clinically, the patients present with sequential or bilateral, painless, progressive visual loss with central (or ceco-central) scotomas. Although the three mutations, namely, G11778A, T14484C, and G3460A contribute to >95% of LHON cases globally, the relative frequency of each mutation varies. Aims and Objectives: We aimed to assess the clinical and genetic profile of patients with mutation-positive LHON at a north Indian tertiary care center. Materials and Methodology: One hundred sixty-one patients (61 prospective and 100 retrospective) presenting with the clinical diagnosis of LHON were screened for the three known mitochondrial mutations (G1178A, G3460A, T14448C). Patients were assessed for detailed clinical, ophthalmological, and neurological examinations. Five milliliter of blood sample was taken to assess the three known mutations using DNA isolation and Sanger sequencing. Results and Discussion: Clinical profile of 83 patients with both positive and negative mutations was analyzed. Twenty-three out of 161 patients (14.3%) tested positive for either of the three mutations. The majority of the patients harbored G11778A mutation (56.52%) followed by T14484C (34.78%) and G3460A (8.69%). No statistical difference could be noted between the clinical profiles of mutation-negative and -positive patients.

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Treatment of Leber’s hereditary optic neuropathy: An overview of recent developments

Cited by 23 publications

References 19 publications

Acupuncture Therapy for the Treatment of Optic Nerve Atrophy

Acupuncture Therapy for the Treatment of Optic Nerve Atrophy

Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

Clinical profile of patients with leber hereditary optic neuropathy (LHON): An ambispective study of North Indian Cohorts

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