Amniotic Membrane Transplantation Preserves Vision in Pediatric Recessive Dystrophic Epidermolysis Bullosa: Case...

Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited disorder characterized by extreme epithelial fragility and progressive cicatrization, frequently leading to severe ocular surface disease and early visual impairment. Surgical interventions such as ocular surface reconstruction (OSR) in childhood are often delayed because of anesthetic risks and concerns regarding recurrence. Consequently, the effectiveness of OSR, including amniotic membrane transplantation (AMT), and its impact on visual development remain poorly documented. Methods: We report a case series of two pediatric patients (three eyes) with genetically confirmed RDEB who underwent single-step OSR using AMT. Clinical outcomes, long-term visual acuity, perioperative management, and histopathological findings were evaluated. Results: Ocular manifestations included corneal epithelial damage, symblepharon, and pseudopterygium extending over the cornea. One patient underwent symblepharon lysis, superficial keratectomy, and AMT onto the bare sclera in the right eye at age 4 and in the left eye at age 8, both under intubated general anesthesia. The other patient underwent the same procedure in the right eye at age 6. Best spectacle-corrected visual acuity improved from ≤20/300 to 20/30 in all eyes, and pupillary zone clarity was maintained during the follow-up period (up to 6 years). Histopathology confirmed pseudopterygium with squamous metaplasia, goblet cell loss, and fibrovascular stroma. Safe general anesthesia was achieved through meticulous multidisciplinary perioperative planning involving anesthesiologists, dermatologists, and pediatricians. No systemic complications related to anesthesia or perioperative management were observed. Conclusions: Single-step OSR with on-lay AMT can restore and preserve visual function in pediatric RDEB. Early surgical intervention may prevent profound amblyopia and provide durable ocular surface stability. A multidisciplinary approach enables safe general anesthesia and perioperative management.