Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1021377
- author
- Malm, Eva LU ; Ponjavic, Vesna LU ; Nishina, Patsy M ; Naggert, Jürgen K ; Hinman, Elizabeth G ; Andréasson, Sten LU ; Marshall, Jan D and Möller, Claes
- organization
- publishing date
- 2008
- 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
- pmid:18195218
- 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
- 2016-04-04 08:04:52
- date last changed
- 2022-04-15 19:52:31
@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}}, doi = {{10.1001/archophthalmol.2007.28}}, volume = {{126}}, year = {{2008}}, }