Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.
Twenty-nine members of a black kindred with congenital X-linked incomplete achromatopsia were examined; nine affected males and seven carrier females were identified. The new findings of importance are the following: (1) this congenital disorder is a slowly progressive abiotrophy, with progressive macular scarring and cone dysfunction, rather than a stationary anomaly; (2) carrier females sometimes can be found by ophthalmoscopic and fluorescein angiographic abnormalities in the macula; and (3) genetic linkage studies give evidence against linkage with the locus for the Xg blood group, but they suggest possible linkage with the glucose-6-phosphate dehydrogenase locus.
D000293:Adolescent; D000328:Adult; D002648:Child; D003117:Color Vision Defects / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014960:X Chromosome
D005954:Glucosephosphate Dehydrogenase