Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus

Arch Ophthalmol. 1981 Mar;99(3):468-72. doi: 10.1001/archopht.1981.03930010470016.


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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Color Vision Defects / congenital
  • Color Vision Defects / genetics*
  • Color Vision Defects / pathology
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage
  • Glucosephosphate Dehydrogenase / genetics*
  • Humans
  • Macula Lutea / pathology
  • Male
  • Middle Aged
  • Pedigree
  • X Chromosome


  • Glucosephosphate Dehydrogenase