Increased tear evaporation in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome

Purpose: To describe the tear function and ocular surface disorders in a patient with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Methods: Routine ophthalmic examinations were performed, including slit-lamp biomicroscopy, anterior segment photography including transillumination photos of the lids, Schirmer tests I and II, tear film break-up time (BUT) assessment, corneal fluorescein staining, DR-1 tear film lipid layer interferometry, and tear evaporation rate measurements. Results: Slit-lamp examination revealed conjunctival hyperemia, superficial punctate keratopathy, and corneal leucoma with neovascularization. Although the Schirmer test values were within normal limits, the BUT value was 0s in both eyes. Transillumination of the lids showed the absence of meibomian glandular structures. DR-1 tear film lipid layer interferometry results were dry eye grade 5 with an irregular tear film, areas of corneal surface exposure, and several dry spots. The tear evaporation rate was elevated and was measured as 6.98 × 10^-7 g/cm² per second (normal, 4.1 ± 1.4 × 10^-7 g/cm² per second). Conclusion: The ocular surface disorder and shortened BUT in EEC syndrome were attributed to the absence of meibomian glands, leading to lipid layer deficiency in the tear film with a concomitant increase in tear evaporation.