Abstract
P 102
The Cockayne syndrome: Juvenile cataract as presenting sign
Matthias Wallusch, Barbara Käsmann-Kellner, Berthold Seitz
Klinik für Augenheilkunde, Universitätskliniken des Saarlandes, Homburg/Saar
Objective
The Cockayne Syndrome is a very rare and difficult to diagnose autosomal–recessive disease, determined by a defect of the nucleotide excision repair system (DNA-repair) of the transcription-coupled-repair.
Methods
A 17-year-old girl is followed by the Department of Ophthalmology Homburg/Saar since birth.
Results
Besides the remarkable general symptoms such as dysmorphia, celiac–disease, psychomotoric retardation and hyposomia, a unilateral, congenital paresis of the abducens nerve of the left eye was diagnosed. At the age of two there was a suspicion of Dubowitz´s syndrome which later was not confirmed. A typical progeroid syndrome could as well be ruled out. Nevertheless, a progredient bilateral cataract was diagnosed at the age of ten years (Visual acuity: OD: 0.50 ; OS: perception with intact light-projection). The patient was treated by cataract surgery and IOL–implantation (07/08). Postoperatively, visual acuity increased to: OD: 0.60 ; OS: 0.10 (amblyopia).
Conclusions
An early classification of dysmorphic syndromes is important for affected patients to ensure an adequate treatment for the sensomotoric and visual development. Early development of cataract may be a presenting sign of the Cockayne-Syndrome.
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