Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus
J. A. Fleischman and F. E. O'Donnell Jr
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.
