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Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

Schatz, Patrik LU ; Abrahamson, Magnus LU ; Eksandh, Louise LU ; Ponjavic, Vesna LU and Andréasson, Sten LU (2003) In Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00 81(5). p.500-507
Abstract
Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS.



Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.



Results: An Arg-46 stop codon conversion and a Ser-125 Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult... (More)
Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS.



Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.



Results: An Arg-46 stop codon conversion and a Ser-125 Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases.



Conclusion: By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease. (Less)
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Contribution to journal
publication status
published
subject
in
Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00
volume
81
issue
5
pages
500 - 507
publisher
Wiley-Blackwell
external identifiers
  • wos:000185596300014
  • pmid:14510799
  • scopus:0142093161
ISSN
1395-3907
DOI
language
English
LU publication?
yes
id
e82b0d33-6ca8-40e7-8981-48c0c89fbb86 (old id 118422)
date added to LUP
2007-07-06 07:49:00
date last changed
2018-05-29 11:35:23
@article{e82b0d33-6ca8-40e7-8981-48c0c89fbb86,
  abstract     = {Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS.<br/><br>
<br/><br>
Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.<br/><br>
<br/><br>
Results: An Arg-46 stop codon conversion and a Ser-125 Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases.<br/><br>
<br/><br>
Conclusion: By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.},
  author       = {Schatz, Patrik and Abrahamson, Magnus and Eksandh, Louise and Ponjavic, Vesna and Andréasson, Sten},
  issn         = {1395-3907},
  language     = {eng},
  number       = {5},
  pages        = {500--507},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00},
  title        = {Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).},
  url          = {http://dx.doi.org/},
  volume       = {81},
  year         = {2003},
}