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


Hotelbuchung
   Hotel Registration
Grußwort
   Welcome address
Beteiligte Gesellschaften
   Societies involved
DOG Information
   DOG Information
Eröffnung des Kongresses
   Opening Ceremony
Preise
   Awards
Ablauf der Tagung 2003
   General overview of congress
Lageplan der Räumlichkeiten
   Map of Congress Center
Wissenschaftliche Themen
   Scientific topics
Symposien
   Symposia
Wissenschaftliches Programm
   Scientific program
Posterpräsentationen
   Poster Presentation
Kurse
   Courses
Begleitende Veranstaltungen
   Accompanying program
Arbeitssitzungen
   Working sessions
Rahmenprogramm
   Social program
Allgemeine Informationen
   General Information
Autorenindex
   Index of Authors
Industrieaussteller
   Commercial exhibitors
Sponsoren
   Sponsors
Impressum



DOG Homepage


Abstract
Abstract

Ocular Complications of a Patient with Christ-Siemens-Touraine Syndrome

Scherer M., Hartmann C., Rieck P.
University Eye Hospital, Charité, Humboldt University Berlin

Purpose: Christ-Siemens-Touraine (CST) syndrome is the most frequent form of hypohidrotic ectodermal dysplasia. The disorder follows a X-linked mode of inheritance (chromosomal localisation: Xq12-q13.1). The CST syndrome is characterized by hypotrichosis, hypodontia, onychodysplasia and hypohidrosis. The latter may lead to life-threatening complications. On the basis of an ocular surface disorder corneal complications may result like in other forms of ectodermal dysplasia.
Results: Case report: We report on a 6 year old patient in whom the mutation has been detected recently. He was suffering from recurrent keratoconjunctivitis since birth, but was not treated for this surface disorder on regular basis. He first presented in our department with an infectious corneal ulcer one year ago, which was treated with local antibiotics and resulted in a corneal scar. Further ocular manifestations included diffuse peripheral subepithelial opacities and epithelial disturbances. Also an hyposecretion of tears was found whereas corneal sensibility was normal. The superior lacrimal points were dysplactic and a polytrichosis was found.
Conclusions: To avoid corneal complications in patients with Christ-Siemens-Touraine syndrome ophthalmologic examinations should be performed as well as artificial tear drops should be taken on regular basis.


Zurück | Back