Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.
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.
Malm
Eva
E
Department of Ophthalmology, Lund University Hospital, SE-221 85, Lund, Sweden. eva.malm@med.lu.se
Ponjavic
Vesna
V
Nishina
Patsy M
PM
Naggert
Jürgen K
JK
Hinman
Elizabeth G
EG
Andréasson
Sten
S
Marshall
Jan D
JD
Möller
Claes
C
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
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins