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Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Malm, Eva LU ; Ponjavic, Vesna LU ; Nishina, Patsy M; Naggert, Jürgen K; Hinman, Elizabeth G; Andréasson, Sten LU ; Marshall, Jan D and Möller, Claes (2008) In Archives of Ophthalmology 126(1). p.51-57
Abstract
OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS:... (More)
OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS: Full-field ERGs confirmed that Alström syndrome is associated with a cone-rod type of retinal degeneration. In this study, we have shown a striking variability in retinal function and disease onset and severity, which has, to our knowledge, not been described previously in Alström syndrome. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Archives of Ophthalmology
volume
126
issue
1
pages
51 - 57
publisher
American Medical Association
external identifiers
  • pmid:18195218
  • wos:000252312800007
  • scopus:38349062524
ISSN
0003-9950
DOI
10.1001/archophthalmol.2007.28
language
English
LU publication?
yes
id
0fdd9e92-c643-4362-b482-a4b6e801adf5 (old id 1021377)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18195218?dopt=Abstract
date added to LUP
2008-02-13 14:09:02
date last changed
2017-01-01 07:34:52
@article{0fdd9e92-c643-4362-b482-a4b6e801adf5,
  abstract     = {OBJECTIVES: To characterize the clinical phenotype and to study the course of disease in patients with Alström syndrome, with an emphasis on retinal function assessed with full-field electroretinography (ERG). METHODS: Three age- and sex-matched patients with Alström syndrome were selected from our retinitis pigmentosa register for repeated ophthalmologic examinations that included tests for color vision and visual fields using Goldmann perimetry and for repeated assessment of full-field ERGs. RESULTS: Electroretinography demonstrated cone-rod degeneration in all 3 patients. A concomitant impairment of color vision and visual fields was also observed as well as marked variation in retinal function and in disease severity. CONCLUSIONS: Full-field ERGs confirmed that Alström syndrome is associated with a cone-rod type of retinal degeneration. In this study, we have shown a striking variability in retinal function and disease onset and severity, which has, to our knowledge, not been described previously in Alström syndrome.},
  author       = {Malm, Eva and Ponjavic, Vesna and Nishina, Patsy M and Naggert, Jürgen K and Hinman, Elizabeth G and Andréasson, Sten and Marshall, Jan D and Möller, Claes},
  issn         = {0003-9950},
  language     = {eng},
  number       = {1},
  pages        = {51--57},
  publisher    = {American Medical Association},
  series       = {Archives of Ophthalmology},
  title        = {Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.},
  url          = {http://dx.doi.org/10.1001/archophthalmol.2007.28},
  volume       = {126},
  year         = {2008},
}