Genomic Insights into Corneal Disorders: From Molecular Pathogenesis to Precision Therapeutics

Corneal disorders are a major global cause of visual impairment and include a diverse range of inherited, degenerative, inflammatory, and developmental conditions. Advances in genomic technologies are moving disease classification beyond phenotype-based descriptions toward molecularly defined entities, improving diagnosis, prognostic assessment, and treatment selection.This Research Topic will bring together genomic discoveries across the spectrum of corneal disease, including monogenic corneal dystrophies, complex ectatic disorders such as keratoconus, endothelial corneal diseases, and developmental anomalies of the anterior segment. Representative conditions include keratoconus (OMIM 148300), Fuchs endothelial corneal dystrophy (OMIM 136800), posterior polymorphous corneal dystrophy (OMIM 122000), congenital hereditary endothelial dystrophy (OMIM 121700), granular corneal dystrophy (OMIM 121900), lattice corneal dystrophy (OMIM 122200), macular corneal dystrophy (OMIM 217800), Axenfeld–Rieger syndrome (OMIM 180500), and aniridia (OMIM 106210). These OMIM entries are representative rather than exhaustive; submissions addressing other genetically defined corneal disorders are also welcome.Particular emphasis will be placed on important genetic determinants, including TGFBI (transforming growth factor beta-induced protein), TCF4 (transcription factor 4), COL5A1 (collagen type V alpha 1 chain), and PITX2 (paired like homeodomain 2), and on associated pathogenic mechanisms such as protein misfolding and aggregation, trinucleotide repeat expansion, extracellular-matrix dysregulation, and disrupted developmental signalling.The Research Topic will also explore the translational impact of genomic discoveries. Areas of interest include, but are not limited to:• The use of next-generation sequencing and other genomic approaches in clinical diagnosis;• Functional validation of disease-associated variants and the improvement of genotype–phenotype correlations;• Genetic modifiers, penetrance, expressivity, and molecular mechanisms underlying disease progression;• Precision-based therapeutic strategies, including gene editing, gene replacement, RNA-targeted interventions, pharmacological rescue, and regenerative medicine;• The integration of genomics with transcriptomics, epigenomics, proteomics, metabolomics, and spatial or single-cell analyses;• Artificial intelligence and machine-learning approaches for variant interpretation, disease classification, risk prediction, and treatment selection; and• Translational studies connecting molecular mechanisms with clinical phenotypes, surgical outcomes, and patient stratification.By bringing together original research and authoritative synthesis, this collection will bridge fundamental genomic science with clinical ophthalmology and support the development of personalised approaches to the prevention, diagnosis, monitoring, and treatment of corneal disease.Article typesWe welcome Original Research, Review, Systematic Review, Mini Review, Brief Research Report, Methods, Hypothesis and Theory, Perspective, Case Reports, and General Commentary articles. Manuscripts should provide a clear connection to the genetic, genomic, molecular, translational, or clinical aspects of corneal disorders described above. Case reports without experimental insights into function are out of scope of this topic. Topic editors: Prity Sahay, Burcin Kepez Yıldız Source: https://www.frontiersin.org/research-topics/82291/genomic-insights-into-corneal-disorders-from-molecular-pathogenesis-to-precision-therapeutics