Genetic Aspects of Congenital Conjunctival Telangiectasia: Examples of Three Phacomatoses
Holak H.1, Holak S.2, Loel U.3
1Augenärtzliche Gemeinschaftspraxis, 3Neurologische Praxisgemeinschaft, Rudolf-Virchow-Ärztehaus, Salzgitter; 2Augenabteilung der Schlosspark-Klinik, Berlin
Purpose: Congenital conjunctival telangiectasias belong to disorders of embryogenesis or chromosomes (autosomal-recessive patterns of inheritance) and exhibit typical syndromes: the Louis-Bar-syndrome, the Klippel-Trenaunay-Weber-syndrome, and the Sturge-Weber-syndrome, depending on the starting point of the disorder during embryonic development.
Method: An interdisciplinary examination (ophthalmological and neurological) was preformed on three subjects. Genetic analysis was performed to demonstrate typical chromosomal breakage and for further molecular genetic diagnosis. Fluorescein angiography of the dilated conjunctival vessels was used to show differences in permeability in the vessel walls. An MRI examination of the brain was carried out for patients with neurological symptoms e.g. ataxia.
Results: Characteristic clinical symptoms of ataxia-telangiectasia were confirmed by a typical hypoplasia of Vermes cerebelli seen in MRI and by elevated rates of chromosomal breakage. Other members of the family showed no symptoms with the autosomal-recessive inheritance pattern. MRI of a patient with the Klippel-Trenaunay-Weber-syndrome, a pronounced varicosis of the extremities, and elephantiasis of legs showed old lacunar defects in
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