Ocular involvement in epidermolysis bullosa acquisita with long-term follow-up

Background/aims To describe the ocular manifestations associated with epidermolysis bullosa acquisita (EBA). Methods This retrospective study was conducted at a tertiary bullous disease clinic. Consecutive patients were enrolled with biopsy proven diagnosis of EBA, with ocular involvement and a follow-up of at least 36 months. A multidisciplinary team of dermatologists, ENT specialists and ophthalmologists evaluated all patients. Immunological workup included direct (including immune-electron microscopy) and indirect immunofluorescence. Ophthalmological examination included best-corrected visual acuity (BCVA) and slit-lamp examination with grading of conjunctival fibrosis using the Tauber classification. Results Nine patients (five females, four males) were included. The mean age at diagnosis was 32 years (range 1-52 years). Follow-up ranged from 3 to 18 years (mean 10.7 years). Conjunctival fibrosis was present in all affected eyes and was stage III or greater in 60% of patients. Eight patients (14 eyes) had corneal involvement most frequently associated with trichiasis-associated mechanical irritation or extensive cicatrising conjunctivitis. Corneal lesions developed on three eyes of three patients without eyelid disease or severe fibrosis or any identifiable triggering factor. Eyelids were affected in six patients, with trichiasis being the most common feature (affecting three patients, four eyes). Corneal-related blindness occurred in at least one eye in 44% of the patients. Conclusion EBA may be associated with devastating ocular manifestations. Most patients develop severe cicatrising conjunctivitis. A subset of patients may present with isolated corneal lesions. Further studies are warranted to assess the effects of systemic treatments on the evolution of ocular manifestations.