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Wydanie 3/2009
str. 52

Choroba Bourneville’a-Pringle’a – wielonarządowa fakomatoza. Opis przypadku

Bourneville-Pringle Disease – Multiorgan Phacomatosis. Case report.

Dominika Białas, Dorota Białas-Niedziela, Iwona Świtka-Więcławska, Dariusz Kęcik

Katedra i Klinika Okulistyki I Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego Kierownik: dr hab. n. med. prof. nadzw. Dariusz Kęcik

Summary: Tuberous sclerosis complex is a progressive, multisystem disorder characterized by the formation of angiomiolipomas or tubers affecting predominantly brain, skin (called adenoma sebaceum), kidneys and heart. The disease is inherited as an autosomal dominant trait with variable penetrance and high spontaneous mutation rate. This disease is associated with mutation in two tumour suppressor genes: TSC1 and TSC2. Two different genetic loci have been identified on chromosome 9q34 (TSC1) and one on chromosome 16p13 (TSC2). The most suggestive eye finding of TSC is retinal astrocytic hamartoma found in 50 to 85% of patients. Three basic morphologic types of retinal hamartomas are recognized: the most common type is flat, semitransparent, circular or oval-shaped lesion, the second type is white, elevated, multinodular calcified lesions described as resembling a mulberry and the third type of lesions contains features of the other two. Other eye findings may include: angiofibromas of the eyelids, poliosis, atypical coloboma of the iris and lens, choroid coloboma, microphthalmia, exophtalmos, hypomelanocytic maculas and optic nerve oedema. The prevalence of tuberous sclerosis among general population is estimated to be one in 10.000-30.000.

Słowa kluczowe: stwardnienie guzowate, triada Vogta, siatkówkowe hamartoma astrocytowe.

Keywords: tuberous sclerosis complex, Vogt’s triad, retinal astrocytic hamartomas.

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