Das BPES – das Blepharophimose-Ptosis-Epikanthus-inversus-Syndrom

Zusammenfassung

Das BPES (zu Deutsch: Waardenburg-Syndrom) wurde erstmalig von Ammon 1841 angegeben und ausführlicher von Vignes 1889 beschrieben. Es betrifft das weiche Bindegewebe des Mittelgesichts und resultiert in einer Blepharophimoseptosis, Epikanthus inversus und einem Telekanthus. Bei der operativen Korrektur beginnt man mit den Epikanthusfalten im Alter von 3 – 4 Jahren. Es folgt nach 9 – 12 Monaten die Korrektur der Ptosis. Frühere operative Eingriffe können zur Beseitigung der Amblyopie notwendig sein. 1995 wurde der Genlokus auf 3Q23 identifiziert. Das BPES entsteht durch Mutation in einem einzelnen Gen, dem FOXL2-Gen. Bei weiblichen Patienten muss eine frühkindliche Ovarialinsuffizienz ausgeschlossen werden.

Abstract

The blepharophimosis ptosis epicanthus inversus syndrome (BPES, also known as Waardenburg syndrome) was probably first reported by Ammon in 1841 and discribed more fully by Vignes in 1889. Its primary effects on the soft tissue of the midface are blepharophimosis, ptosis, epicanthus inversus and telecanthus. It starts with the epicanthic folds at about the age of 3 – 4 years, followed by the correction of the ptosis about 9 – 12 months later. Early surgery may be necessary for amblyopia. In 1995 the gene locus was identified as 3Q23. BPES is due to a mutation within a single gene, the FOXL2 gene. In female patients an early childhood ovarian insufficiency must be excluded.

Schlüsselwörter

BPES - Waardenburg-Syndrom - Ptosis - Epikanthus - operative Korrektur - Genetik

Key words

BPES - Waardenburg-Syndrom - ptosis - epicanthus - surgical correction - Genetics

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