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V.P. J. Saw, J.K. G. Dart; Cicatrising Conjunctivitis Associated With Ectodermal Dysplasia . Invest. Ophthalmol. Vis. Sci. 2005;46(13):2663.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To report six cases of cicatrising conjunctivitis associated with ectodermal dysplasia and propose that ocular surface failure plays a role in the pathogenesis of keratopathy and visual impairment in these patients. Methods: Case series of six ectodermal dysplasia patients referred to the External Disease clinic at Moorfields Eye Hospital evaluated with tear film assessment, impression cytology and conjunctival biopsy. Results: The mean patient age was 40.3 years (range 38–51) with M: F ratio 2:1. Conjunctival inflammation was present in 12/12 eyes (grade 2 inflammation in 4/12, grade 3 in 4/12, grade 4 in 4/12). Average superior fornix depth was 12.3mm ± 4, average inferior fornix depth was 7.1mm ± 3. Modified Mondino–Foster grading of conjunctival scarring showed upper forniceal conjunctival cicatrisation of grade I in 4/12 eyes, grade II in 4/12 and grade III in 4/12 eyes. Lower forniceal conjunctival scarring was grade I in 4/12 eyes, grade II in 2/12 and grade III in 6/12 eyes. Entropion was present in 4/12 eyes and trichiasis in another 4/12 eyes. Meibomian gland orifices were absent in 12/12 eyes. Corneal pannus with associated opacity were present in all eyes, localised in the superior quadrants in 7/12 eyes and extending circumferentially over 4 quadrants in 5/12 eyes. Schirmer's tests were within normal limits in 9/12 eyes, and reduced in the remainder. Tear film break up time was reduced in 12/12 eyes, in keeping with the lack of meibomian gland orifices and consequent lipid tear dysfunction. Conjunctival histology demonstrated chronic inflammation in the substantia propria in 12/12 eyes. Conjunctival direct immunofluorescence for anti–basement membrane antibodies showed only a nonspecific fibrin band with negative immunostaining in 12/12 eyes. Central corneal impression cytology showed mosaic CK19 (conjunctival) and CK3 (corneal) immunoreactivity in 8/8 eyes, with dual labelling of cells in 4/8 eyes. Goblet cells were present in the central cornea on impression cytology in 4/8 eyes, however no goblet cells were found in 4/8 eyes. The presence of CK19 immunoreactivity in the central cornea suggests conjunctivalisation associated with limbal stem cell deficiency. Conclusions: Cicatrising conjunctivitis, secondary lid position abnormalities and tear film deficiencies are all factors which can lead to ocular surface failure in ectodermal dysplasia. We believe that ocular surface failure plays a role in the pathogenesis of corneal neovascularisation, scarring and susceptibility to corneal perforation in these patients.
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