[Progressive cone dystrophy: electrophysiological changes in female carriers].
The authors evaluated a family with X-linked progressive cone dystrophy and special attention was paid to female carriers. Twenty-four members of the family were examined. One generation II--male and five generation III--males were affected. Two generation II--females who, in each case had affected children, but who were asymptomatic, underwent electrophysiological evaluations. The electroretinograms were found to be subnormal in both patients with alterations of cone-mediated responses and color vision. The discovery of abnormalities in female carriers emphasized the necessity of systematically performing electroretinography, together with color vision testing and pedigree examination, when assessing so called sporadic cone dystrophy or in cases where the modes of inheritance are not clear.
Amzallag
T
T
Service d'Explorations fonctionnelles de la vision du C.H.R. de Lille.
Puech
B
B
Hache
J C
JC
François
P
P
D000293:Adolescent; D000328:Adult; D003117:Color Vision Defects / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D012737:Sex Factors; D014960:X Chromosome
Dystrophie progressive des cônes: altérations électrophysiologiques chez les femmes transmettrices.