Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"


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Abstract
Abstract

Trigeminus Aplasia in a Patient with Klippel-Feil-Syndrome

Löw U., Käsmann-Kellner B., Kootz D., Lang H. M., Ruprecht K. W.
Universitäts-Augenklinik Homburg/Saar

Purpose: The Klippel-Feil-syndrome (OMIM 148900, 8q, 22.2) is a rare congenital anomaly, which is characterized by the fusion of several cervical vertebrae and results in cervical movement restrictions. Numerous malformations in patients with this syndrome have been reported. A coincidence of Klippel-Feil-syndrome with trigeminal aplasia, however, has to the best of our knowledge not been described up to now.
Method: A now 5 years old boy with known Klippel-Feil-syndrome and a previous hydrocephalus-shunt-op, anotia left, hearing loss right was presented as an emergency with a reddening of the left eye when he was one year old. The red eye had been unsuccessfully treated for over 3 weeks by the local ophthalmologist. On examination, a corneal clouding with central ulceration and anterior segment inflammation was noted. Due to the lack of corneal sensibility on the left eye and weak pressure and pain sensibility on the left side of his face the diagnosis of a neuroparalytic corneal ulceration was made. Although with topical treatment the corneal ulcer healed, but in the following time a progressive calcification of the cornea with vascularized scarring and corneal thinning developped. Aiming at preventing deep amblyopia we performed a lamellar keratoplasty 10 months following the first consultation. Occlusion treatment worked reasonably well although the boy showed re-opacification of t


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