Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations
CONCLUSION: We describe how genetic advancements have made it possible for patients with the 4 most common hereditary optic atrophies to fulfill their wish to have children without visually threatening genetic mutations. We also review the recent literature on the penetrance of optic atrophy in OA-mutation carriers and raise 2 significant ethical considerations: the reduction of a future life to a non-life-threatening impairment and that of public expenditure for non-life-threatening conditions.
Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant
CONCLUSION: This case strengthens the evidence for m.3866T>C as a causative LHON variant. The case also raises the question as to whether this particular variant can respond favourably to treatment with idebenone.
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…