OCULAR SURFACE COMPLICATIONS IN THE COURSE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP AND PALATE SYNDROME

Erodactyly-ectodermal dysplasia-cleft lip and palate syndrome (EEC) is a rare type of ectodermal dysplasia which is inherited in autosomal dominant pattern. Clinical presentation is characterised by a triad: ectrodactyly, ectodermal dysplasia and cleft lip and palate. Ophthalmic manifestation of the disease frequently leads to vision loss. Most common ocular manifestations are: obstruction of lacrimal drainage, corneal stem cells deficiency, impaired corneal regeneration, predisposition to corneal neovascularisation and also common inflammation of anterior segment of the eye.  Authors present a case patient with EEC presenting corneal complications and the way to have a therapeutic success.

Department of Ophthalmology, Professor Gibinski's University Clinical Centre. Medical University of Silesia in Katowice, Poland

35 years old woman with diagnosed EEC was referred to our department for consultation because of deteriorating condition of cornea of the both eyes. She had already undergone corneal micro-transplant in march 2020 in another department of ophthalmology because of the perforation of the cornea in the course of ulceration.

On a visit she presented BCVA of the right eye 0,4, left eye no light perception. Slit lamp examination revealed in the right eye- corneal keratopathy with opacification in the stroma, neovascularisation of the cornea, fundus- without abnormalities.  In the left eye microtransplant of the cornea, sutures maintained, neovascularization of cornea, anterior synechiae, fundus not visible in examination.

Additional ophthalmic examinations were done. Tear break up time was 2 seconds for the right eye and 3 seconds for left one. Ultrasound biomicroscopy of the left eye showed anterior synechiae and postinflammatory conglomerates in the anterior chamber and behind the iris. Confocal microscopy of the cornea of the right eye showed collagen overproduction and scarring in the anterior stroma.

We introduced pharmacological therapy including topical steroids, lubricating eyedrops and regenerating ointments. We obtained improvement of the visual acuity of the right eye to 0,7. Special modification of the therapy was the way to have a therapeutic success. Currently patient has regular follow-ups and her ophthalmic condition is stable.

Corneal complications in the course of EEC can be sight threatening as it happened in our patient’s left eye. Therefore special attention should be given to provide intensive therapy and regular ophthalmological examination