Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies
Author Information
Author(s): D’Esposito Fabiana, Zeppieri Marco, Cordeiro Maria Francesca, Capobianco Matteo, Avitabile Alessandro, Gagliano Giuseppe, Musa Mutali, Barboni Piero, Gagliano Caterina, Jeltsch Albert, Ricci Claudia
Primary Institution: Imperial College Ophthalmic Research Group (ICORG), Imperial College, London, UK
Hypothesis
This narrative review study seeks to consolidate existing knowledge on the genetic and molecular mechanisms underlying ocular neuropathies, examine genotype-phenotype correlations, and assess novel therapeutic options to improve diagnostic and treatment methodologies.
Conclusion
Genetic and molecular investigations have markedly enhanced our comprehension of ocular neuropathies, and further research is required to enhance therapeutic strategies.
Supporting Evidence
- Optic neuropathies can lead to vision impairment and possible blindness.
- DOA and LHON are associated with mitochondrial dysfunction due to pathogenic variants.
- Glaucoma is linked to genetic variants in several key genes.
- Novel therapeutics like gene therapy and antioxidants show promise for treating optic nerve damage.
Takeaway
This study looks at how different genetic factors affect eye diseases that can lead to vision loss, and it suggests new ways to treat these conditions.
Methodology
A systematic literature review was performed utilizing PubMed, Medline, the Cochrane Library, and ClinicalTrials.gov with specific search terms related to optic neuropathies.
Limitations
The review is based on existing literature and may not encompass all recent findings or unpublished data.
Digital Object Identifier (DOI)
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