Late onset dominant cone dystrophy with early blue cone involvement.
A dominant cone dystrophy spanning seven generations was found in a pedigree from the Netherlands. The onset of the decline of visual acuity started after the age of 20, while a near complete absence of blue cone function (a so-called tritan defect) already existed before the presence of any ophthalmological abnormalities.
Went
L N
LN
Department of Human Genetics, Faculty of Medicine, University of Leiden, The Netherlands.
van Schooneveld
M J
MJ
Oosterhuis
J A
JA
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003117:Color Vision Defects / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*