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Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle Audo, Olivier Vanakker UGent, Alaric Smith, Bart Leroy UGent, Anthony G Robson, Sharon A Jenkins, Paul Coucke UGent, Alan C Bird, Anne De Paepe UGent and Graham E Holder, et al. (2007) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 48(9). p.4250-4256
abstract
PURPOSE. Pseudoxanthoma elasticum (PXE; [MIM 264800]) is an autosomal recessive systemic disorder characterized by progressive degeneration and calcification of elastic fibers in connective tissue. The phenotype is variable, with cutaneous, vascular, and ophthalmic abnormalities. The disorder is a consequence of mutations in the ABCC6 gene. Visual impairment is mainly due to neovascular complications, and retinal function is usually assumed to be normal. The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE. METHODS. Four unrelated patients carrying a clinical diagnosis of PXE presented with unexplained visual loss. After ophthalmic examination, retinal and macular function was assessed by full-field electroretinogram (ERG) and pattern ERG, respectively, according to ISCEV ( International Society for Clinical Electrophysiology of Vision) recommendations. Molecular analysis of the ABCC6 gene was performed in three patients by dHPLC (denaturing high-performance liquid chromatography) and direct sequencing. RESULTS. Full-field ERG revealed significant reduction of cone and rod responses in all four patients. Funduscopic appearances varied. Three patients were found to carry ABCC6 mutations. In case 1, a novel nonsense mutation (p.L1474X) was detected in exon 31 paired with a splice-site mutation. Mutation analyses in cases 3 and 4 revealed previously reported ABCC6 mutations. CONCLUSIONS. These findings suggest that retinal dysfunction in PXE may not be uncommon. The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
ABC TRANSPORTER, GENE, MUTATIONS, TISSUES, MRP6, UPDATE, MOUSE
journal title
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Invest. Ophthalmol. Vis. Sci.
volume
48
issue
9
pages
4250 - 4256
Web of Science type
Article
Web of Science id
000249061900049
JCR category
OPHTHALMOLOGY
JCR impact factor
3.528 (2007)
JCR rank
5/45 (2007)
JCR quartile
1 (2007)
ISSN
0146-0404
DOI
10.1167/iovs.05-1604
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
389877
handle
http://hdl.handle.net/1854/LU-389877
date created
2008-03-03 08:53:00
date last changed
2015-06-17 10:47:39
@article{389877,
  abstract     = {PURPOSE. Pseudoxanthoma elasticum (PXE; [MIM 264800]) is an autosomal recessive systemic disorder characterized by progressive degeneration and calcification of elastic fibers in connective tissue. The phenotype is variable, with cutaneous, vascular, and ophthalmic abnormalities. The disorder is a consequence of mutations in the ABCC6 gene. Visual impairment is mainly due to neovascular complications, and retinal function is usually assumed to be normal. The purpose of this study was the objective assessment of macular and generalized retinal function in unrelated patients with clinical and/or genetic features of PXE. 
METHODS. Four unrelated patients carrying a clinical diagnosis of PXE presented with unexplained visual loss. After ophthalmic examination, retinal and macular function was assessed by full-field electroretinogram (ERG) and pattern ERG, respectively, according to ISCEV ( International Society for Clinical Electrophysiology of Vision) recommendations. Molecular analysis of the ABCC6 gene was performed in three patients by dHPLC (denaturing high-performance liquid chromatography) and direct sequencing. 
RESULTS. Full-field ERG revealed significant reduction of cone and rod responses in all four patients. Funduscopic appearances varied. Three patients were found to carry ABCC6 mutations. In case 1, a novel nonsense mutation (p.L1474X) was detected in exon 31 paired with a splice-site mutation. Mutation analyses in cases 3 and 4 revealed previously reported ABCC6 mutations. 
CONCLUSIONS. These findings suggest that retinal dysfunction in PXE may not be uncommon. The mechanism underlying retinal dysfunction is unknown but may result from metabolic disturbance leading to retinal toxicity with a possible role of modifying genetic or environmental factors rather than specific ABCC6 mutations},
  author       = {Audo, Isabelle and Vanakker, Olivier and Smith, Alaric and Leroy, Bart and Robson, Anthony G and Jenkins, Sharon A and Coucke, Paul and Bird, Alan C and De Paepe, Anne and Holder, Graham E and Webster, Andrew R},
  issn         = {0146-0404},
  journal      = {INVESTIGATIVE OPHTHALMOLOGY \& VISUAL SCIENCE},
  keyword      = {ABC TRANSPORTER,GENE,MUTATIONS,TISSUES,MRP6,UPDATE,MOUSE},
  language     = {eng},
  number       = {9},
  pages        = {4250--4256},
  title        = {Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?},
  url          = {http://dx.doi.org/10.1167/iovs.05-1604},
  volume       = {48},
  year         = {2007},
}

Chicago
Audo, Isabelle, Olivier Vanakker, Alaric Smith, Bart Leroy, Anthony G Robson, Sharon A Jenkins, Paul Coucke, et al. 2007. “Pseudoxanthoma Elasticum with Generalized Retinal Dysfunction, a Common Finding?” Investigative Ophthalmology & Visual Science 48 (9): 4250–4256.
APA
Audo, Isabelle, Vanakker, O., Smith, A., Leroy, B., Robson, A. G., Jenkins, S. A., Coucke, P., et al. (2007). Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 48(9), 4250–4256.
Vancouver
1.
Audo I, Vanakker O, Smith A, Leroy B, Robson AG, Jenkins SA, et al. Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding? INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2007;48(9):4250–6.
MLA
Audo, Isabelle, Olivier Vanakker, Alaric Smith, et al. “Pseudoxanthoma Elasticum with Generalized Retinal Dysfunction, a Common Finding?” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 48.9 (2007): 4250–4256. Print.