title: Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination.
abstract: OBJECTIVE
  To study the basis of defective levator palpebrae superioris (LPS) function in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), an autosomal dominant eyelid malformation sometimes associated with ovarian dysfunction.
  
  
  METHODS
  Eight patients with molecularly proved BPES underwent high-resolution surface-coil 3-T magnetic resonance imaging before surgical intervention. The features of LPS muscle and adjoining connective tissue were compared with an age-matched control subject. During LPS resection for ptosis repair, detailed anatomic examination of the LPS was performed. Histopathologic characteristics were compared with normal control samples from a cadaver and a patient with simple severe congenital ptosis.
  
  
  RESULTS
  The most striking feature shown on magnetic resonance imaging was the thin, long anterior part of the LPS. During the operation, this consisted of a disorganized, thin, long aponeurosis. However, in the posterior part of the LPS, there was an organized thick structure suggestive of a muscle belly. Histopathologic examination revealed posteriorly well-formed striated muscle fibers in all patients with BPES but not in the control sample from the patient with simple severe congenital ptosis. These striated muscle fibers were comparable to those of the normal control tissue but were more intermixed with collagenous tissue and little fatty degeneration.
  
  
  CONCLUSIONS
  The presence of striated muscle fibers in LPS of patients with BPES contrasts with the fatty degeneration in patients with simple severe congenital ptosis. To our knowledge, this is the first study providing novel insights into the pathogenesis of the eyelid malformation in BPES through extensive imaging, anatomic study, and histopathologic testing in a unique cohort of patients with molecularly proved BPES.
authors.affiliation: Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium. Christian.decock@ugent.be
authors.forename: Christian E
authors.initials: CE
authors.lastname: Decock
authors.forename: Elfride E
authors.initials: EE
authors.lastname: De Baere
authors.forename: Wouter
authors.initials: W
authors.lastname: Bauters
authors.forename: Akash D
authors.initials: AD
authors.lastname: Shah
authors.forename: Christophe
authors.initials: C
authors.lastname: Delaey
authors.forename: Ramese
authors.initials: R
authors.lastname: Forsyth
authors.forename: Bart P
authors.initials: BP
authors.lastname: Leroy
authors.forename: Philippe
authors.initials: P
authors.lastname: Kestelyn
authors.forename: Ilse
authors.initials: I
authors.lastname: Claerhout
mesh_terms: D000293:Adolescent; D016569:Blepharophimosis / Q000235:genetics / Q000503:physiopathology* / Q000601:surgery; D001763:Blepharoptosis / Q000151:congenital; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008594:Menopause, Premature / Q000235:genetics; D009801:Oculomotor Muscles / Q000503:physiopathology* / Q000601:surgery; D012868:Skin Abnormalities / Q000235:genetics / Q000503:physiopathology* / Q000601:surgery
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors