title: Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness.
abstract: STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2. In XLRS STR amplitude was significantly lower than normal at every intensity, but the response could be recorded in every patient and the maximum amplitude response was outside the 95% confidence limits in only four of the nine patients. STRs were significantly poorer in patients with CSNB and a responses was not measurable at any intensity in nine of the 11 patients with CSNB1. In both CSNB and XLRS the STR could only be recorded at higher stimulus intensities, suggesting reduced sensitivity of the STR. In XLRS onset and peak latencies were also significantly prolonged and the slope of the intensity-response functions for amplitude and onset latency differed significantly from normal. Maximum STR amplitude did not correlate with the maximum dark-adapted ERG response. The finding of abnormal STRs and dark adapted ERGs in all three dystrophies indicates that the different causative genes must have similar effects on the rod On-bipolar cell pathway. But there were also differences between the three clinical groups, particularly in the greater severity of the abnormality in CSNB1, which suggests that there may be multiple sites of abnormality.
authors.affiliation: Ophthalmology Department, Addenbrooke's Hospital, Hills Road, Cambridge, UK. keith.bradshaw@addenbrookes.nhs.uk
authors.forename: Keith
authors.initials: K
authors.lastname: Bradshaw
authors.forename: Douglas
authors.initials: D
authors.lastname: Newman
authors.forename: Louise
authors.initials: L
authors.lastname: Allen
authors.forename: Anthony
authors.initials: A
authors.lastname: Moore
mesh_terms: D000328:Adult; D003623:Dark Adaptation; D004596:Electroretinography; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology*; D011930:Reaction Time; D041441:Retinoschisis / Q000235:genetics* / Q000503:physiopathology; D012684:Sensory Thresholds; D014785:Vision, Ocular