Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia.
Four patients with autosomal dominant cerebellar ataxia and retinal degeneration underwent neurologic and ophthalmologic examinations and computer-assessed corneal electroretinography. Previous reports described progressive panretinal degeneration initially involving the cones and subsequently spreading to the rods. By contrast, all our patients displayed evidence of selective dysfunction of the cone system in one or two successive electroretinograms, irrespective of their age or duration of visual symptoms. Color vision testing, funduscopy, and fluorescein angiography suggested a cone dystrophy. Within the period of observation only one patient showed progression of cone dysfunction. In patients with hereditary ataxias, quantitative electroretinography provides an objective and sometimes early indication of retinal degeneration and helps to characterize it.
Hamilton
S R
SR
Department of Medicine, University of Washington Medical Center, Seattle 98195.
Chatrian
G E
GE
Mills
R P
RP
Kalina
R E
RE
Bird
T D
TD
D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D002524:Cerebellar Ataxia / Q000145:classification / Q000235:genetics / Q000503:physiopathology*; D003118:Color Perception; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010786:Photoreceptor Cells / Q000503:physiopathology*; D012162:Retinal Degeneration / Q000235:genetics / Q000503:physiopathology*; D014792:Visual Acuity