‘Adrift From the World’: Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom – A Qualitative Study
CONCLUSIONS: Visual impairment due to an ION threatens the independence of affected individuals, leading to psychosocial losses and reduced emotional wellbeing. Despite the challenges they face, people living with an ION describe a “relatively” good VRQoL, often due to the positive impact of social support, enabling them to lead fulfilling lives.
Leber Hereditary Optic Neuropathy and Epilepsy in a Mexican Patient
This case describes a woman in her 30s who was diagnosed with Leber hereditary optic neuropathy (LHON), a genetic disorder causing vision loss associated with mitochondrial DNA mutations. Initially diagnosed in childhood, she also developed epilepsy in adolescence. Despite treatment with multiple anticonvulsants, her initial seizures were only partially controlled. Brain MRI and scalp EEG results indicated left temporal lobe epilepsy, and she ceased seizures after modification of her…
Acute Bilateral Vision Loss in a Young Male: A Case of Leber’s Hereditary Optic Neuropathy
Leber’s Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder that primarily affects young adult males, leading to acute or subacute painless central vision loss. The condition results from point mutations in mitochondrial DNA, most commonly affecting the ND1, ND4, or ND6 genes, which impair the function of complex I in the mitochondrial respiratory chain. This leads to selective degeneration of retinal ganglion cells and the optic nerve, causing severe and often…
Uncovering the Characteristics of Pupil Cycle Time (PCT) in Neuropathies and Retinopathies
Pupil cycle time (PCT) estimates the dynamics of a biofeedback loop established between pupil size and stimulus luminance, size or colour. The PCT is useful for probing the functional integrity of the retinopupillary circuits, and is therefore potentially applicable for assessing the effects of damage due to retinopathies or neuropathies. In previous studies, PCT was measured by manually counting the number of pupil oscillations during a fixed period to calculate the PCT. This method is scarce,…
Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy
CONCLUSIONS: Better baseline BCVA values and baseline thicker GCL and RNFL at OCT measurements are key predictive factors of the improved BCVA 1.5 years after treatment in patients with MT-ND4 LHON who received lenadogene nolparvovec at least 6 months after disease onset.
Leber’s Hereditary Optic Neuropathy
CONCLUSION: Although still uncommon, the presentation of LHON in middle-aged women is possible and should be considered as one of the differential diagnoses in a patient when painless vision loss occurs.
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups
Primary mitochondrial diseases (PMD) are caused by pathogenic variants in over 350 genes, 37 of which are located in mitochondrial DNA (mtDNA). While more than 100 mtDNA variants have confirmed disease associations, there are few reports of mtDNA-related PMD in patients with African heritage, even in well-studied populations. We investigated the frequency of pathogenic mtDNA variants in African L-haplogroups in patients with confirmed PMD from two diagnostic cohorts. Data from genetically…
Therapeutic benefit of idebenone in Leber hereditary optic neuropathy: a systematic review and meta-analysis
CONCLUSION: This systematic review and meta-analysis found a substantial clinical improvement in visual acuity with idebenone therapy among patients with LHON.
Leber’s hereditary optic neuropathy-associated ND1 3733G> C mutation ameliorates the mitochondrial quality control and cellular homeostasis
Leber’s hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying LHON-linked mtDNA mutations, especially their impact on mitochondrial and cellular integrity, is not well understood. Recently, the ND1 3733G>C (p.E143Q) mutation was identified in three Chinese pedigrees with suggestively maternal inheritance of LHON. In this study, we investigated the pathogenic mechanism of m.3733G>C mutation…
Optic nerve MRI findings in Leber’s hereditary optic neuropathy
CONCLUSION: MRI lesions can extend from the intraorbital optic nerve to the chiasm and tract. Consistent with previous reports, chiasmal involvement was frequently observed and was more prevalent in younger patients. Recognition of these characteristic MRI and clinical findings is crucial in the differential diagnosis of subacute progressive optic neuropathy.