Abstract
Purpose
To correlate the response of topical dorzolamide (Trusopt; Merck) in patients with X-linked retinoschisis (XLRS) with genotype.
Methods
We carried out a retrospective evaluation of four patients (seven eyes) with XLRS, treated with topical dorzolamide. The change in best-corrected visual acuity (VA) and central macular thickness (CMT; central 1 mm subfield thickness) from optical coherence tomography (OCT) was analysed over the follow-up period, using Student's t-test. Each patient also had genetic analysis for mutations in the retinoschisisgene (RS1).
Results
The mean age at the start of treatment was 14.7±11 years, and mean follow-up duration was 21.7±7.7 months. Mean CMT at the final follow-up was significantly better than at baseline (291±123 vs352±119 μm, P=0.007); however, mean VA was worse (0.38±0.25 vs0.31±0.24 logMAR score, P=0.041). All four patients had a mutation in the RS1gene; there was no apparent association between the type of mutation and the response to topical dorzolamide.
Conclusion
Topical dorzolamide may have some effect in reducing central macular thickness in patients with XLRS, but this does not necessarily correlate with improvement in VA. In our case series, genotypic information did not predict the response to this treatment.
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Acknowledgements
We acknowledge the East Anglian Molecular Genetics Laboratory at Addenbrooke's Hospital, Cambridge, UK, for performing molecular genetic testing and for providing genotype data for the patients. We also thank Frimley Park Hospital NHS Trust, the TFC Frost Charitable Trust, and the Gift of Sight Appeal for providing funding.
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This study was previously presented as an abstract at ARVO 2009.
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Khandhadia, S., Trump, D., Menon, G. et al. X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye 25, 922–928 (2011). https://doi.org/10.1038/eye.2011.91
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DOI: https://doi.org/10.1038/eye.2011.91
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