title: Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Lund University Hospital, SE-221 85, Lund, Sweden. eva.malm@med.lu.se
authors.forename: Eva
authors.initials: E
authors.lastname: Malm
authors.forename: Vesna
authors.initials: V
authors.lastname: Ponjavic
authors.forename: Patsy M
authors.initials: PM
authors.lastname: Nishina
authors.forename: Jürgen K
authors.initials: JK
authors.lastname: Naggert
authors.forename: Elizabeth G
authors.initials: EG
authors.lastname: Hinman
authors.forename: Sten
authors.initials: S
authors.lastname: Andréasson
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Claes
authors.initials: C
authors.lastname: Möller
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D018797:Cell Cycle Proteins; D002648:Child; D003117:Color Vision Defects / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D009154:Mutation; D009765:Obesity / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome; D014786:Vision Disorders / Q000503:physiopathology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins