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M. Cortes, A. Lambiase, M. Sacchetti, S. Aronni, R. Sgrulletta, S. Bonini; Limbal Stem Cells Deficiency Associated with LADD Syndrome . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1379.
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Purpose:to evaluate ocular surface changes in patients with LADD syndrome including cytological evaluation of the corneal epithelium. Methods: a complete study of the ocular surface was performed in two patients (mother and daughter) affected by LADD syndrome, including corneal and conjunctival impression cytology to detect goblet cells and cytokeratin pattern, corneal aesthesiometry (by Cochet-Bonnet) and, in the mother, hematological exams and conjunctival biopsy. Results: in both patients limbal stem cell deficiency (LSCD) and corneal hypo-anesthesia were present. Histological findings showed the presence of total (presence of goblet cells and K19 positive cells on the whole corneal surface) and partial (presence of goblet cells and K19 positive cells only on the inferior corneal sector) LSCD in the mother and the child respectively. Schirmer-I test, BUT test, and conjunctival cytology showed the presence of dry eye in the mother but not in the daughter. In addition, an increase in circulating immunocomplexes was present in the mother. Conjunctival biopsy showed histopathological changes related to dry eye in the mother. Conclusions: the ocular involvement in LADD syndrome cannot be considered solely related to dry eye but is probably the result of ocular surface changes such as LSCD and corneal sensitivity impairment.
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