Leber’s hereditary optic neuropathy: Update on current diagnosis and treatment
Leber’s hereditary optic neuropathy (LHON) is a fairly prevalent mitochondrial disorder (1:50,000) arising from the dysfunction of the mitochondrial respiratory chain, which eventually leads to apoptosis of retinal ganglion cells. The usual presentation is that of a young male with a sequential reduction in visual acuity. OCT has been used to study the pattern of optic nerve involvement in LHON, showing early thickening of the inferior and superior retinal nerve fibre layer and ganglion cell…
Assessment of objective visual function following idebenone administration in patients with leber hereditary optic neuropathy
CONCLUSION: fMRI may offer a valuable objective measure of visual functions in LHON and appears to be more relevant in assessing symptoms. Further research with more participants is needed to ascertain fMRI’s role in developing objective visual assessments and treatment evaluation.
Leber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective
CONCLUSION: The results of this study clearly show that patients with LHON and their families face an extensive socioeconomic burden related to this rare disease. Early, timely and appropriate access to diagnosis, treatment, and reimbursement decisions, but also to psychological counselling and services may help the patients and their relatives adapt and cope with the challenging aspects of vision loss and life with the disease.
Gene therapy for Leber hereditary optic neuropathy
INTRODUCTION: Leber hereditary optic neuropathy (LHON) is among the most frequent inherited mitochondrial disease, causing a severe visual impairment, mostly in young-adult males. The causative mtDNA variants (the three common are m.11778 G>A/MT-ND4, m.3460 G>A/MT-ND1, and m.14484T>C/MT-ND6) by affecting complex I impair oxidative phosphorylation in retinal ganglion cells, ultimately leading to irreversible cell death and consequent functional loss. The gene therapy based on allotopic expression…
Maculopapillary Bundle Degeneration in Optic Neuropathies
PURPOSE OF REVIEW: Degeneration of the maculopapillary bundle (MPB) is a prominent feature in a spectrum of optic neuropathies. MPB-selective degeneration is seen in specific conditions, such as nutritional and toxic optic neuropathies, Leber hereditary optic neuropathy (LHON), and dominant optic atrophy (DOA). Despite their distinct etiologies and clinical presentations, which encompass variations in age of incidence and monocular or binocular onset, these disorders share a core molecular…
Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method
CONCLUSIONS: The prevalence of LHON estimated in the ACM was lower than in other European countries. Population-based registries of rare diseases require the incorporation of confirmed cases provided by clinicians to asure the best completeness of data. The use of more specific coding for rare diseases in healthcare information systems would facilitate the detection of cases. Further epidemiologic studies are needed to assess potential factors that may influence the penetrance of LHON.
Variability of relationship between inner-retinal structural changes and visual dysfunction in optic neuropathy
Optical coherence tomography (OCT) displays the retinal nerve fiber layer (RNFL) or macular ganglion cell and inner plexiform layer (GCIPL) thickness below 1st percentile in red color. This finding generally indicates severe inner-retinal structural changes and suggests poor visual function. Nevertheless, some individuals show preserved visual function despite these circumstances. This study aimed to identify the correlation between best-corrected visual acuity (BCVA) and inner-retinal thickness…
Impaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON
Mitochondrial dynamics were examined in human dermal fibroblasts biopsied from a confirmed Leber’s Hereditary Optic Neuropathy (LHON) patient with a homoplasmic G11778A mutation of the mitochondrial genome. Expression of the G11778A mutation did not impart any discernible difference in mitochondrial network morphology using widefield fluorescence microscopy. However, at the ultrastructural level, cells expressing this mutation exhibited an impairment of mitochondrial morphological plasticity…
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber’s hereditary optic neuropathy due to DNAJC30 mutations
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss, and rarely associated with extraocular manifestations including multiple sclerosis-like lesions. The association of LHON and neuromyelitis optica spectrum disorders has rarely been reported. Here is reported a case of glial fibrillary acidic protein astrocytopathy presenting with area postrema syndrome in a patient with previously diagnosed recessive LHON due to mutations in the nuclear gene…
Leber’s hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
CONCLUSIONS AND IMPORTANCE: Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber’s hereditary optic neuropathy to confirm the clinical diagnosis.