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Ocular Manifestations of a Patient with Hay-Wells Syndrome

1Scherer M., 1Rieck P., 1Hartmann C., 2Tinschert S.,
1Humboldt-Universität zu Berlin, Charité Campus Virchow-Klinikum, Augenklinik (Berlin)
2Humboldt-Universität zu Berlin, Charité Campus Virchow-Klinikum, Institut für Medizinische Genetik (Berlin)

Background: Hay-Wells syndrome, also known as AEC syndrome (ankyloblepharon-ectodermal dysplasia-clefting) is a rare form of ectodermal dysplasia which was first differentiated as unique disorder with an autosomal-dominant pattern of inheritance in 1976. This syndrome is characterised by scalp infections, alopecia, ankyloblepharon, oligodontia, hypohidrosis and cleft lip and/or palate. It has been recently demonstrated that heterozygous mutations in the p63 gene (chromosomal localisation: 3q27) are the major cause for this disease. Different mutations in the p63 gene are also responsible for other ectodermal dysplasia syndromes including the better known EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting).
Case report: We report on a 41 year old patient in whom the mutation in the p63 gene has been detected recently. During childhood he was anamnestic suffering from recurrent conjunctivitis. At first presentation in our department at the age of 33 he already did show severe corneal changes (vascularisation, erosions, ulzerations, scaring). A keratoplasty à chaud had been performed on his LE shortly after because of descemetocele formation. Further ocular manifestations included hypoplasia of the tear duct and meibomian glands as well as dry eye sypmtoms. Even he received systemic immunosuppression and two further keratoplasties on his LE it was not possible to stop the slowly progressing bilateral loss of vision. Finally, following 8 years of observation his visual acuity was reduced to 5/200 and CF respectively.

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