Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity DOI Open Access
Marco Zeppieri, Caterina Gagliano, Marco Di Maita

et al.

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(8), P. 3892 - 3892

Published: April 20, 2025

Nonsyndromic and syndromic hereditary optic neuropathies (HONs) encompass a variety of genetic illnesses that cause progressive nerve damage, resulting in considerable vision impairment. These disorders result from pathogenic variants mitochondrial or nuclear DNA, impacting essential cellular processes like oxidative phosphorylation, dynamics, neuroprotection. Advances next-generation sequencing (NGS) have significantly improved the identification variations, enabling precise diagnoses genotype–phenotype correlations. This review consolidates current knowledge regarding classification, molecular pathogenesis, clinical manifestations, diagnostic methodologies, emerging therapeutic strategies for HONs. The critical role dysfunction degeneration highlights necessity multimodal approaches. Recent trials evaluating gene therapy Leber neuropathy (LHON) neuroprotective dominant atrophy (DOA) are discussed. Additionally, individualized interventions, as demonstrated by recent case studies involving tailored therapies, evaluated. integration imaging biomarkers future personalized treatment aims to enhance prognosis outcomes.

Language: Английский

Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity DOI Open Access
Marco Zeppieri, Caterina Gagliano, Marco Di Maita

et al.

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(8), P. 3892 - 3892

Published: April 20, 2025

Nonsyndromic and syndromic hereditary optic neuropathies (HONs) encompass a variety of genetic illnesses that cause progressive nerve damage, resulting in considerable vision impairment. These disorders result from pathogenic variants mitochondrial or nuclear DNA, impacting essential cellular processes like oxidative phosphorylation, dynamics, neuroprotection. Advances next-generation sequencing (NGS) have significantly improved the identification variations, enabling precise diagnoses genotype–phenotype correlations. This review consolidates current knowledge regarding classification, molecular pathogenesis, clinical manifestations, diagnostic methodologies, emerging therapeutic strategies for HONs. The critical role dysfunction degeneration highlights necessity multimodal approaches. Recent trials evaluating gene therapy Leber neuropathy (LHON) neuroprotective dominant atrophy (DOA) are discussed. Additionally, individualized interventions, as demonstrated by recent case studies involving tailored therapies, evaluated. integration imaging biomarkers future personalized treatment aims to enhance prognosis outcomes.

Language: Английский

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