Advances in Genetic and Genomic Research for Understanding and Treating Ophthalmic Diseases

Visual impairment and ophthalmic diseases remain significant public health challenges worldwide, driven largely by the aging population. Recent advancements in genetics and genomics have greatly enhanced our understanding of these conditions, leading to improved diagnostics, targeted therapies, and new insights into the molecular mechanisms underlying various eye diseases. This Research Topic seeks to explore key aspects of genetic and genomic research in ophthalmology, focusing on novel discoveries and their clinical implications.

Many ophthalmic disorders have a strong genetic basis. Breakthroughs in identifying key genes responsible for inherited conditions have revolutionized the diagnosis and counseling of affected families. Additionally, genome-wide association studies (GWAS) have uncovered genetic variants linked to complex diseases like age-related macular degeneration (AMD) and glaucoma, offering new opportunities for predictive models and therapeutic targets.

Next-generation sequencing (NGS) technologies, including whole-exome sequencing and targeted gene panels, have dramatically improved genetic diagnostics, enabling rapid identification of disease-causing mutations in rare inherited eye diseases. The emergence of epigenetics and gene expression studies has also revealed novel regulatory mechanisms in diseases like retinal degeneration and corneal dystrophies, pointing to potential new therapeutic avenues.

Stem cell technologies, such as induced pluripotent stem cells (iPSCs), have opened the door to personalized medicine and regenerative treatments, while pharmacogenomics and precision medicine are transforming patient care by tailoring therapies to individual genetic profiles.

We invite Original Research and Review submissions on:
• GWAS in ophthalmic disease genetics
• Familial or syndromic ocular condition case studies
• NGS-driven insights into ocular genetics
• Gene-environment interactions and epigenetics in eye diseases
• Stem cell and regenerative therapies for visual disorders
• Personalized medicine and pharmacogenomics in ophthalmology

Case report submissions are welcome provided they comply with the section's guidelines and offer significantly new information.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Classification
• Clinical Trial
• Data Report
• Editorial
• FAIR² Data
• FAIR² DATA Direct Submission
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Policy Brief
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Genetic variants, Genome-wide association studies (GWAS), Next-generation sequencing (NGS), Gene-environment interactions, Ophthalmic diseases, Epigenetics, Stem cell therapy, Personalized medicine

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.