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This abstract is assigned to session Poster session in O'Bistro
Presentation typeOB - poster
TitleInsights into Levator muscle dysfunction in a cohort of molecularly confirmed BPES patients using high-resolution imaging, anatomical examination and histopathology
PurposeBlepharophimosis syndrome (BPES) is an autosomal dominant eyelid malformation associated or not with ovarian dysfunction. The pathophysiology underlying this eyelid malformation remained unexplored. It was our aim to study the basis of defective Levator Palpebrae Superioris (LPS) function in BPES.
MethodsEight molecularly proven BPES patients underwent high-resolution surface coil three tesla MRI prior to surgery. The features of LPS muscle and adjoining connective tissue were compared with an age comparable control. During levator resection for ptosis repair, detailed anatomical examination of the LPS was performed. Histopathology was compared with a normal control and a sample from a patient with simple congenital ptosis.
ResultsThe most striking feature obtained by MRI was the thin and long anterior part of LPS. During surgery this consisted of a disorganized, long and thin aponeurosis.
However in the posterior part there was presence of an organized thick structure assuming a muscle belly.
Histopathology revealed posteriorly well formed striated muscle fibers in all BPES patients, but not in the control sample from the patient with severe congenital ptosis. These striated muscle fibers were comparable to the normal control but are more intermixed with collagenous tissue and little fatty degeneration.
ConclusionThe presence of striated muscle fibers in LPS of BPES patients contrasts with the fatty degeneration in patients with severe congenital ptosis.
This is the first study providing novel insights into the pathogenesis of the eyelid malformation in BPES through exhaustive imaging, anatomic study and histopathology in a unique cohort of molecularly proven BPES.
Author 1
Last nameDECOCK
DepartmentGhent University Hospital
Author 2
Last nameKestelyn
DepartmentGhent University Hospital
Author 3
Last nameLeroy
DepartmentGhent University Hospital
Author 4
Last nameClaerhout
DepartmentGhent University Hospital
Author 5
Last nameDebaere
DepartmentGhent University Hospital
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