Severe Ocular Surface Disease In A Pediatric Patient With Recessive Dystrophic Epidermolysis Bullosa: A Clinical Case

To describe the onset, progression, and management challenges of severe ocular surface disease in a paediatric patient with recessive dystrophic epidermolysis bullosa (RDEB). We present a retrospective longitudinal review of clinical records, ophthalmological examinations, and photographic documentation performed from 2020 to 2025 in a male infant with genetically confirmed RDEB, followed from birth. Therapeutic interventions included intensive ocular surface lubrication, topical antibiotics, corticosteroids, ciclosporin, and bevacizumab. The patient also participated in a clinical trial with beremagene geperpavec (B-VEC), a herpes simplex virus type-1–based gene therapy.

Department of Ophthalmology, Unidade Local de Saúde de São João, a tertiary ophthalmic referral centre in Porto, Portugal.

A 9 days-old male patient presented with severe unilateral corneal neovascularization with intrastromal haemorrhage. Despite topical corticosteroids and subsequent topical bevacizumab and topical cicloporin, only temporary regression was achieved. Progressive bilateral corneal scarring, conjunctivalization, pseudopterygium formation and symblepharon developed due to recurrent epithelial trauma. A diagnosis of RDEB was confirmed by genetic testing (COL7A1 mutation). The patient enrolled in a clinical trial with topical B-VEC, showing dermatological improvement and partial regression of ocular lesions. Visual acuity was light perception and counting fingers by 2 years of age despite multimodal therapy.

RDEB may cause early, aggressive ocular surface disease with severe visual impairment. Topical anti-VEGF (Vascular Endothelial Growth Factor) therapy can provide temporary control of corneal neovascularization but does not prevent cicatricial progression. The limited efficacy of current treatments underscores the complexity of managing ocular disease in RDEB. Early multidisciplinary care, close ophthalmological surveillance, and visual rehabilitation are essential. Emerging approaches, such topical B-VEC, may represent future treatment options, although further evidence and regulatory approval are required.