377 Insuffisance limbique précoce chez un enfant de sept ans atteint de syndrome KID

Abstract

To report one case of early limbal stem cell deficiency (LSCD) in a seven year old child with authentified KID syndrome (isolated mutation D50N of the GJB2 gene). Refraction, slit lamp examination, tear film study with fluorescein, maebomian secretions study and impression cytology (IC) were performed. Two IC specimens were collected for each eye; one for optical microscopy (Nelson's classification), the other to evaluate the expression of HLA-DR in flow cytometry. Slit lamp examination of the cornea showed a 360° peripheral neovascular stromal invasion in both eyes with no preponderance for eyelids contact areas. Break up time was normal OS. No maebomian dysfunction was found. Nelson's score confirmed LSCD while flow cytometry showed no overexpression of HLA-DR compared with data obtained from normal subjects. LSCD can be found in young patients with KID syndrome. It seems not due to chronic ocular surface inflammation nor maebomian dysfunction but to primary limbal stem cell dysfunction due to the mutation of the connexin 26 gene. IC is a valuable method to help in the early diagnosis of LSCD in young patients with KID syndrome.