| Summary: | Epidermolysis bullosa (EB) describes a group of inherited bullous disorders affecting the basement membrane zone of skin and mucous membranes. It is characterised by fragility and blistering of the skin and mucosa following friction or mechanical trauma. Ocular features are thought to result from a lack of adherence and disruption of the corneal and/or conjunctival epithelium. This thesis aimed to prospectively evaluate the ocular complications occurring in children with EB via comprehensive ocular examination including assessment of the anterior segment, posterior segment and ocular movements. Findings demonstrated the majority of EB patients exhibit signs of meibomian gland dysfunction (MGD) and decreased tear break up time (TBUT), abnormal tear films on Tearscope® evaluation and ocular surface anomalies. Two further cohorts were studied; a) Age-matched control patients with no anterior segment pathology to provide normative data on MGD and TBUT and b) Children diagnosed with MGD who did not suffer from EB to compare the ocular surface phenotype in these, with that in children with EB and MGD. Having identified MGD and an abnormal ocular surface in children with EB, and shown effective management of MGD in otherwise healthy children, translational research was performed to evaluate the effect of potential therapeutic options at a cellular level. Skills in tissue culture and flow cytometry were developed to work with two untransfected conjunctival cell lines (Immortalized Cell Line (IOBA-NHC) and the Wong-Kilbourne derivative of Chang cells) as an in vitro method to investigate the effect of the current therapeutic agents for MGD on the conjunctival epithelial inflammatory response. In conclusion this thesis furthers our understanding of the ocular phenotype in EB subtypes, the aetiology of ocular features and the appropriate management. Findings may allow future therapeutic developments with greater specificity for children with EB.
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