Editorial: Global perspectives on genetic diagnosis and treatments for inherited retinal diseases

Abstract

Another important message emerging from this collection is that genetic diagnosis remains an evolving process.Koyanagi et al. analyzed more than 500 patients with retinitis pigmentosa and demonstrated that the diagnostic yield of current targeted sequencing panels declines markedly with increasing patient age (4). Their findings suggest that elderly patients may harbor undiscovered disease-causing variants or genetic mechanisms that remain beyond the reach of existing diagnostic approaches, underscoring the need for continued gene discovery and refinement of sequencing strategies.Beyond diagnosis, several articles illustrates how advances in molecular research are shaping future clinical care.Tao et al. identified an IL-23-related inflammatory network associated with cystoid macular edema in retinitis pigmentosa, supporting neuroinflammation as a potential therapeutic target beyond gene replacement (5).Complementing this work, Suleman provides a comprehensive review of current therapeutic strategies for retinitis pigmentosa, including gene and cell therapies, optogenetics, retinal prostheses, pharmacological interventions, and neuroprotective approaches (6).The collection also illustrates how genetic technologies are expanding into clinical practice. Li et al. demonstrated the successful use of preimplantation genetic testing (PGT-M) to prevent transmission of an RS1 mutation causing X-linked retinoschisis, emphasizing the growing role of genomic medicine in family planning (7). Although outside the traditional spectrum of IRDs, He et al. reported a novel RB1 splice-site mutation in familial retinoblastoma, further emphasizing the value of molecular diagnosis in inherited ocular diseases (8).Finally, this Research Topic illustrates the importance of a global perspective in IRD research. Contributions from Japan, China, and Indonesia highlight regional genetic diversity and clinical variability, which will become increasingly important as precision medicine and gene-specific therapies continue to expand.Taken together, these studies demonstrate that progress in IRD research relies on integrating molecular genetics, deep phenotyping, biomarker discovery, and translational research. We thank all authors, reviewers, and the editorial staff of Frontiers in Ophthalmology for their valuable contributions. We hope this collection will promote further international collaboration and accelerate the development of more precise diagnostics and effective treatments for patients with inherited retinal diseases worldwide.

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