Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.

Area of Science:

• Ophthalmology
• Regenerative Medicine
• Genetics

Background:

• Inherited optic neuropathies (IONs) cause progressive, irreversible vision loss in young individuals.
• Limited treatments exist, often leading to severe visual impairment and legal blindness.
• Induced pluripotent stem cells (iPSCs) present novel research and therapeutic avenues for IONs.

Purpose of the Study:

• To review iPSC-based disease modeling and therapeutic strategies for dominant optic atrophy (DOA) and Leber hereditary optic neuropathy (LHON).
• To explore translational advances in cell-based and gene-based therapies.
• To examine opportunities for neuroprotection and drug screening using iPSCs.

Main Methods:

• Systematic literature review using PubMed with specific search terms for optic neuropathies and iPSCs.
• Identification of clinical trials via ClinicalTrials.gov.

Main Results:

• iPSC technology enables patient-focused investigation of genetic defects and disease mechanisms in IONs.
• IONs are well-suited for both disease modeling and therapeutic applications using iPSCs.
• The review covers cell-based, gene-based therapies, neuroprotection, and drug screening.

Conclusions:

• iPSCs provide a powerful tool for understanding and potentially treating inherited optic neuropathies.
• This rapidly evolving field holds significant promise for accelerating the development of effective therapies.
• iPSC research is at the forefront of basic and translational efforts for blinding optic nerve diseases.