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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

CHRISTIAN DECOCK (UGent) , Elfride De Baere (UGent) , Wouter Bauters (UGent) , Akash D Shah, Christophe Delaey (UGent) , Ramses Forsyth (UGent) , Bart Leroy (UGent) , Philippe Kestelyn (UGent) and Ilse Claerhout (UGent)
(2011) ARCHIVES OF OPHTHALMOLOGY. 129(12). p.1564-1569
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Organization
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.
Keywords
MR, Genotype-phenotype correlation, connective-tissue system, MUTATIONS, BLEPHAROPTOSIS, FOXL2, syndrome BPES, palpebrae superioris muscle

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Chicago
DECOCK, CHRISTIAN, Elfride De Baere, Wouter Bauters, Akash D Shah, Christophe Delaey, Ramses Forsyth, Bart Leroy, Philippe Kestelyn, and Ilse Claerhout. 2011. “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.” Archives of Ophthalmology 129 (12): 1564–1569.
APA
DECOCK, C., De Baere, E., Bauters, W., Shah, A. D., Delaey, C., Forsyth, R., Leroy, B., et al. (2011). 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. ARCHIVES OF OPHTHALMOLOGY, 129(12), 1564–1569.
Vancouver
1.
DECOCK C, De Baere E, Bauters W, Shah AD, Delaey C, Forsyth R, et al. 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. ARCHIVES OF OPHTHALMOLOGY. 2011;129(12):1564–9.
MLA
DECOCK, CHRISTIAN, Elfride De Baere, Wouter Bauters, et al. “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.” ARCHIVES OF OPHTHALMOLOGY 129.12 (2011): 1564–1569. Print.
@article{2014989,
  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.},
  author       = {DECOCK, CHRISTIAN and De Baere, Elfride and Bauters, Wouter and Shah, Akash D and Delaey, Christophe and Forsyth, Ramses and Leroy, Bart and Kestelyn, Philippe and Claerhout, Ilse},
  issn         = {0003-9950},
  journal      = {ARCHIVES OF OPHTHALMOLOGY},
  keyword      = {MR,Genotype-phenotype correlation,connective-tissue system,MUTATIONS,BLEPHAROPTOSIS,FOXL2,syndrome BPES,palpebrae superioris muscle},
  language     = {eng},
  number       = {12},
  pages        = {1564--1569},
  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},
  url          = {http://dx.doi.org/10.1001/archophthalmol.2011.348},
  volume       = {129},
  year         = {2011},
}

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