Tufting enteropathy: ocular surface and conjunctival markers

Abstract Purpose to describe clinical impairment and ocular surface anomalies in a case of tufting enteropathy (intestinal epithelial dysplasia) and to characterized conjunctival markers Methods We studied a case of a 5 year‐old girl presenting a tufting enteropathy which is a rare congenital disease with persistent diarrhea. Systemic anomalies were associated. She presented a tearing since 8 months‐old. At 5 years old she developed a marked keratitis with itching and blepharospasm non‐responding to treatment. At fundus a unilateral coloboma was noted. Conjunctival impression cytology specimen were processed and markers were analyzed using flow cytometry and were expressed by determining the percentage of cells expressing the markers. CC chemokine receptor 4 (CCR4), CC chemokine receptor 5 (CCR5) expression and HLA‐DR were studied. Conjunctival biopsies were studied in optical microscopy. Results Markers obtained with conjunctival impression cytology specimens were described showing CCR4 CCR4 was overexpressed related to the Th2 inflammatory pathways. More than 60% are associated with a non specific keratitis. Allergic and dry eye syndrome could be both implicated in the mechanism of the keratitis. Conjunctival biopsy showed acute inflammation of the conjunctiva with epithelial cells exfoliation. This typical aspect of the conjunctiva could be related with the observed disorganization of surface enterocytes with focal crowding forming tuft. Conclusion A better understanding of ocular surface disorders in tufting enteropathy might help to elucidate the molecular mechanisms of corneal and intestinal epithelial diseases.