Longitudinal study of the early electroretinographic changes in Alström's syndrome.
We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alström's syndrome and studied the early stages of the severe retinopathy that is characteristic of that disease. The weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is undetectable. The rod component of the electroretinogram is initially normal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathognomonic of Alström's syndrome and different from other cone-rod dystrophies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.
Tremblay
F
F
Department of Ophthalmology, Dalhousie University, Halifax, Nova Scotia, Canada.
LaRoche
R G
RG
Shea
S E
SE
Ludman
M D
MD
D002675:Child, Preschool; D003623:Dark Adaptation; D003638:Deafness / Q000503:physiopathology*; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D009765:Obesity / Q000503:physiopathology*; D012164:Retinal Diseases / Q000503:physiopathology*; D013577:Syndrome