In vivo confocal microscopic evaluation of patients with epidermolysis bullosa demonstrates severe loss of corneal nerves

Abstract

Purpose Epidermolysis bullosa (EB) is a rare inherited genetic disorder associated with severe ocular surface complications and progressive corneal scarring. This case series aimed to structurally characterize and quantitatively analyze central corneal subbasal nerve plexus loss using in vivo confocal microscopy (IVCM) in pediatric patients with recessive dystrophic epidermolysis bullosa (RDEB). Observations This retrospective case series included five pediatric patients with RDEB presenting with ocular and systemic manifestations. In vivo confocal microscopy (IVCM) imaging showed severe central subbasal corneal nerve plexus loss in 85% of eyes, with a median total nerve density of 0 μm/mm2 (IQR: 0–5150.67), main nerve trunk density of 0 μm/mm2 (IQR: 0–2720.56), and branch nerve density of 0 μm/mm2 (IQR: 0–2769.22). Dendritiform reflective structures were qualitatively observed in multiple scans of eyes demonstrating marked central subbasal nerve loss.No immunophenotyping was performed. Corneal sensation testing was not performed due to severe ocular surface fragility and photophobia; therefore, no clinical diagnosis or staging of NK was inferred or concluded from this cohort. Conclusions and importance This series identifies profound structural corneal denervation of the central subbasal plexus on IVCM in pediatric RDEB-associated ocular surface disease. The findings support future prospective studies investigating corneal nerve-regeneration and epithelial-stabilization frameworks to preserve long-term visual outcomes in children with RDEB