Category: LHON

Extraocular features of Leber hereditary optic neuropathy: A scoping review

CONCLUSION: Early detection of these systemic manifestations, especially in cardiac and neurological systems, could help with prompt intervention and improve patient outcomes. Further research into gene therapy and mitochondrial replacement techniques holds promising potential for developing more effective treatment strategies.

Technological advances in the diagnosis and management of inherited optic neuropathies

Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). Their pathogenesis is characterised by mitochondrial dysfunction, which causes loss of RGCs leading to irreversible vision loss. Although currently incurable, there are several emerging therapeutic avenues encompassing gene…

‘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,…

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…