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S. Khandhadia, A. Lotery, G. Menon; X-Linked Retinoschisis and Topical Dorzolamide - Does Genotype Predict Response?. Invest. Ophthalmol. Vis. Sci. 2009;50(13):6279.
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To report our experiences of using topical dorzolamide (Trusopt®) in patients with X-linked retinoschisis (XLRS), and to correlate this with genotypic data.
We carried out a retrospective evaluation of 4 patients (7 eyes) with XLRS, treated with topical dorzolamide. All patients had macular schisis at baseline. Best-corrected visual acuity (VA) and central macular thickness (CMT) from optical coherence tomography (OCT) were recorded at baseline and each follow-up visit. Snellen VA was converted to logMAR VA for analysis. We analysed the change in VA and CMT over the follow-up period. Each patient also had genetic analysis for mutations in the retinoschisis gene (RS-1).
The mean age was 14.7(±11.2) years, and mean duration of follow-up was 293(±172) days. The mean logMAR VA at baseline was 0.30(±0.24), compared to 0.33(±0.21) at last follow-up (p=0.58). The mean CMT at baseline was 352(±119) microns, compared to 318(±127) at last follow-up (p=0.08). 5 out of 7 eyes demonstrated a mean reduction in CMT for the duration of treatment. 1 eye showed a clinically significant reduction (293 to 212 microns), but with no clinically significant improvement in VA. This patient happened to be the only adult in our case series. Only 1 eye demonstrated a significant clinical improvement in VA (0.52 to 0.30 logMAR equivalent). 1 patient stopped treatment early in one eye since the VA worsened; otherwise there were no adverse events. All 4 patients had a mutation in the RS-1 gene; 2 had a SNP (single nucleotide polymorphism) in exon 6, 1 had a duplication in the same region, and the 4th had 2 SNPs in the region predicted to affect splicing. 2 eyes of patients with single SNPs appeared to respond somewhat better to topical dorzolamide.
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