Detection of the carrier state of X-linked retinoschisis.
We determined the extent of suppressive rod-cone interaction in 11 obligate carriers and eight potential carriers of X-linked retinoschisis from eight families. Despite otherwise normal ophthalmoscopic and functional testing, all of the obligate heterozygous carriers demonstrated a complete absence of normal rod-cone interaction. Of the potential heterozygous carriers, three had normal rod-cone interactions, two had no detectable interaction, and two yielded technically unsatisfactory results. This lack of rod-cone interactions allows heterozygous individuals to be identified clinically and has implications concerning the origin of this inherited disorder.
Arden
G B
GB
Institute of Ophthalmology, University of London, England.
Gorin
M B
MB
Polkinghorne
P J
PJ
Jay
M
M
Bird
A C
AC
D005425:Flicker Fusion; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology; D012167:Retinal Perforations / Q000235:genetics* / Q000503:physiopathology; D012684:Sensory Thresholds; D014960:X Chromosome