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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
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
MR, Genotype-phenotype correlation, connective-tissue system, MUTATIONS, BLEPHAROPTOSIS, FOXL2, syndrome BPES, palpebrae superioris muscle
journal title
ARCHIVES OF OPHTHALMOLOGY
Arch. Ophthalmol.
volume
129
issue
12
pages
1564 - 1569
Web of Science type
Article
Web of Science id
000297995000007
JCR category
OPHTHALMOLOGY
JCR impact factor
3.711 (2011)
JCR rank
5/56 (2011)
JCR quartile
1 (2011)
ISSN
0003-9950
DOI
10.1001/archophthalmol.2011.348
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
2014989
handle
http://hdl.handle.net/1854/LU-2014989
date created
2012-02-01 15:28:37
date last changed
2012-03-01 15:53:26
@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},
}

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.