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 Scandinavica
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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/118422
- author
- Schatz, Patrik
LU
; Abrahamson, Magnus
LU
; Eksandh, Louise
LU
; Ponjavic, Vesna
LU
and Andréasson, Sten
LU
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Acta Ophthalmologica Scandinavica
- volume
- 81
- issue
- 5
- pages
- 500 - 507
- publisher
- Wiley
- external identifiers
-
- wos:000185596300014
- pmid:14510799
- scopus:0142093161
- ISSN
- 1395-3907
- DOI
- 10.1034/j.1600-0420.2003.00134.x
- language
- English
- LU publication?
- yes
- id
- e82b0d33-6ca8-40e7-8981-48c0c89fbb86 (old id 118422)
- date added to LUP
- 2016-04-01 16:54:13
- date last changed
- 2022-01-28 23:01:06
@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}},
series = {{Acta Ophthalmologica Scandinavica}},
title = {{Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).}},
url = {{https://lup.lub.lu.se/search/files/4814380/623883.pdf}},
doi = {{10.1034/j.1600-0420.2003.00134.x}},
volume = {{81}},
year = {{2003}},
}