Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies

Genes, Год журнала: 2024, Номер 15(12), С. 1559 - 1559

Опубликована: Ноя. 29, 2024

Background/Objectives: Optic neuropathies are a category of illnesses that ultimately cause damage to the optic nerve, leading vision impairment and possible blindness. Disorders such as dominant atrophy (DOA), Leber hereditary neuropathy (LHON), glaucoma demonstrate intricate genetic foundations varied phenotypic manifestations. This narrative review study seeks consolidate existing knowledge on molecular mechanisms underlying ocular neuropathies, examine genotype-phenotype correlations, assess novel therapeutic options improve diagnostic treatment methodologies. Methods: A systematic literature was performed in October 2024, utilizing PubMed, Medline, Cochrane Library, ClinicalTrials.gov. Search terms encompassed “optic neuropathy”, “genetic variants”, “LHON”, “DOA”, “glaucoma”, “molecular therapies”. Studies were chosen according established inclusion criteria, concentrating dimensions their ramifications. Results: The results indicate DOA LHON mostly associated with mitochondrial dysfunction resulting from pathogenic variants nuclear genes, mainly OPA1, DNA (mtDNA) respectively. Glaucoma, especially its variants, is linked genes like MYOC, OPTN, TBK1. Molecular mechanisms, oxidative stress inflammatory modulation, pivotal disease progression. Innovative therapeutics, including gene therapy, RNA-based treatments, antioxidants idebenone, exhibit promise for alleviating nerve safeguarding vision. Conclusions: Genetic investigations have markedly enhanced our comprehension neuropathies. amalgamation data essential customized medical strategies. Additional research required enhance strategies fill gaps understanding pathophysiology. interdisciplinary approach shows potential enhancing patient outcomes

Язык: Английский

Introductory Chapter: The New Era in Neuro-Ophthalmology – Challenges and Changes

IntechOpen eBooks, Год журнала: 2024, Номер unknown

Опубликована: Окт. 16, 2024

Язык: Английский