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Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)

Eksandh, Louise LU ; Ekström, Ulf LU ; Abrahamson, Magnus LU ; Bauer, Birgitta LU and Andréasson, Sten LU (2001) In Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00 79(5). p.524-530
Abstract
Purpose: To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1). Methods. Two pairs of siblings with STGD1, for whom diagnosis had been confirmed by genetic linkage to the ABCA4 gene region, were examined regarding visual acuity, kinetic perimetry, fundus photography, full-field ERG and multifocal ERG (MERG). Possible disease-causing mutations were screened for by DNA sequencing of selected regions of the ABCA4 gene. Results. All STGD1 patients, had visual acuity 0.07-0.1. The two families presented different fundus appearances, MERGs and implicit times on. 30 Hz flicker white light full-field ERGs. Genetic analysis revealed one unique... (More)
Purpose: To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1). Methods. Two pairs of siblings with STGD1, for whom diagnosis had been confirmed by genetic linkage to the ABCA4 gene region, were examined regarding visual acuity, kinetic perimetry, fundus photography, full-field ERG and multifocal ERG (MERG). Possible disease-causing mutations were screened for by DNA sequencing of selected regions of the ABCA4 gene. Results. All STGD1 patients, had visual acuity 0.07-0.1. The two families presented different fundus appearances, MERGs and implicit times on. 30 Hz flicker white light full-field ERGs. Genetic analysis revealed one unique sequence variation in exon 19 of the ABCA4 gene, in one allele from the patients of one of the families. This point mutation causes the amino acid substitution T972N in the ABCR protein. Conclusion. Two pairs of siblings with STGD1 presented two different expressions of the disease regarding the distribution of the retinal dysfunction. One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated. (Less)
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author
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Contribution to journal
publication status
published
subject
in
Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00
volume
79
issue
5
pages
524 - 530
publisher
Wiley-Blackwell
external identifiers
  • wos:000171549500020
  • scopus:0034792696
ISSN
1395-3907
DOI
10.1034/j.1600-0420.2001.790520.x
language
English
LU publication?
yes
id
7c66756a-10cc-479e-83f8-4e530096c46d (old id 1118850)
date added to LUP
2008-06-26 15:43:18
date last changed
2018-05-29 12:20:15
@article{7c66756a-10cc-479e-83f8-4e530096c46d,
  abstract     = {Purpose: To describe the clinical expressions, with emphasis on electrophysiological examinations, in two Swedish families with Stargardt's macular dystrophy (STGD1). Methods. Two pairs of siblings with STGD1, for whom diagnosis had been confirmed by genetic linkage to the ABCA4 gene region, were examined regarding visual acuity, kinetic perimetry, fundus photography, full-field ERG and multifocal ERG (MERG). Possible disease-causing mutations were screened for by DNA sequencing of selected regions of the ABCA4 gene. Results. All STGD1 patients, had visual acuity 0.07-0.1. The two families presented different fundus appearances, MERGs and implicit times on. 30 Hz flicker white light full-field ERGs. Genetic analysis revealed one unique sequence variation in exon 19 of the ABCA4 gene, in one allele from the patients of one of the families. This point mutation causes the amino acid substitution T972N in the ABCR protein. Conclusion. Two pairs of siblings with STGD1 presented two different expressions of the disease regarding the distribution of the retinal dysfunction. One possible molecular explanation to the different clinical expressions may be the T972N substitution present in the ABCR protein in one of the STGD1 families investigated.},
  author       = {Eksandh, Louise and Ekström, Ulf and Abrahamson, Magnus and Bauer, Birgitta and Andréasson, Sten},
  issn         = {1395-3907},
  language     = {eng},
  number       = {5},
  pages        = {524--530},
  publisher    = {Wiley-Blackwell},
  series       = {Acta Ophthalmologica Scandinavica1998-01-01+01:002008-01-01+01:00},
  title        = {Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)},
  url          = {http://dx.doi.org/10.1034/j.1600-0420.2001.790520.x},
  volume       = {79},
  year         = {2001},
}