Purchase this article with an account.
Maria Silvana Galantuomo, Alberto Cuccu, Ignazio Zucca, Markus N Preising, Birgit Lorenz, Maurizio Fossarello; Efficacy of oral acetazolamide and topical dorzolamide therapy for X-linked juvenile retinoschisis maculopathy. Invest. Ophthalmol. Vis. Sci. 2014;55(13):5910.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To evaluate the response of macular cysts after treatment with acetazolamide tablet or dorzolamide eye drops in 2 brothers with juvenile X-linked retinoschisis (XLRS).
We carried out a retrospective evaluation of two brothers (four eyes) with XLRS, treated with acetazolamide tablet (375 mg daily) for three months, followed by dorzolamide 2% eye drops three times a day for further three months. 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. Genetic analysis for mutations in the retinoschisis gene (RS1) was also performed.
The age of patients at the start of treatment was 18 and 20 years, and follow-up duration was 6 months. In patient 1 CMT at the final follow-up was significantly better than at baseline (RE 563 vs 430 μm, LE 501 vs 277 μm), as well as VA (RE 3/10 (0,522 logMAR) LE 3/10 (0,522 logMAR).vs RE 6/10 (0,221 logMAR), LE 5/10 (0,301 logMAR) ); in patient 2 CMT at the final follow-up was also better than at baseline (RE 496 vs 416 μm, LE 519 vs 455 μm), hoever VA remained unchanged (RE 4/10 (0,397 logMAR) and LE 5/10 (0,301 logMAR)). Oral acetazolamide administered for three months achieved a substantial reduction of macular cysts and, to a lesser extent, of visual acuity, with no adverse effects. The topical 2% dorzolamide did not obtain a further reduction of CMT and the visual acuity was unchanged. Sequence analysis of the RS1 gene identified a hemizygous 589C>T (Arg197Cys) missense mutation in exon 6. The patients' mother was heterozygous 589C/T and also an unaffected sister was heterozygous for this mutation. This mutation has not been previously reported in Italian families with XLRS.
This study showed that both oral acetazolamide and topical dorzolamide have effect in reducing or stabilize central macular thickness and improve or stabilize VA in 2 patients with XLRS maculopathy associated with a hemizygous 589C>T (Arg197Cys) missense mutation in exon 6. Given the potential requirement for long term treatment, the utility of acetazolamide may be limited by potential systemic side effects, while a topical medication would be preferable for long term treatment.
This PDF is available to Subscribers Only