In vivo confocal microscopic evaluation of patients with epidermolysis bullosa demonstrates severe loss of corneal nerves
Year: 2026
Type: article
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: (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.
Institutions: Boston University, Boston Medical Center, Boston Children's Hospital, Harvard University, Koç University, Dana-Farber Cancer Institute, Tufts University, Tufts Medical Center, University of New Mexico, United States Food and Drug Administration, Center for Devices and Radiological Health, University of South Florida
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $1,590
OpenAlex ID: W7128014066