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Sanne Kirsten Verbakel, John van de Ven, Linda M.P. Le Blanc, Joannes M.M. Groenewoud, Eiko de Jong, Carel C B Hoyng; Acetazolamide for the treatment of cystic macular lesions in children and young adults with hereditary macular dystrophies. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2699.
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© ARVO (1962-2015); The Authors (2016-present)
Little is known regarding the therapeutic effect of oral acetazolamide in the management of cystic macular lesions in children and young adults with hereditary macular dystrophies, despite that this group is of special interest in view of the age of onset of most hereditary macular dystrophies. Therefore, the aim of this retrospective, observational clinical study was to determine the efficacy of oral acetazolamide in the treatment of cystic macular lesions in children and young adults with hereditary macular dystrophies.
We studied a total of 17 children and young-adults with X-linked retinoschisis (XLRS) or dominant cystoid macular dystrophy (DCMD), treated with oral acetazolamide for cystic macular lesions. All patients were assessed for best-corrected visual acuity and foveal zone thickness (FZT) with spectral-domain optical coherence tomography before and during treatment. A reduction of more than 21,7% or 43,8% in FZT, equal to exceeding normal FZT variability, was considered significant in patients with XLRS and DCMD, respectively.
Overall, mean FZT decreased from 435,7 µm at baseline to 312,0 µm at the most recent visit while receiving treatment (p<0.001). 5 of 7 (71,4%) XLRS patients and 4 of 10 (40,0%) DCMD patients showed a significant reduction of FZT in at least one eye. 4 of 7 (57,1%) XLRS patients and 2 of 10 (20,0%) DCMD patients showed a reduction in both eyes over a median treatment interval of 14,4 (range; 1-54) months. In 8 of 9 (88,9%) patients, this reduction was already present after one month of treatment. An improvement of visual acuity in one eye was observed in 4 of 17 patients (2 XLRS patients; 2 DCMD patients), but none of the patients showed an improvement of visual acuity in both eyes. Reported minor side effects were limb paresthesias, hypokalemia or fatigue in 10 patients (58,9%) and one patient suffered from the major side effect of kidney stones.
We showed that treatment with oral acetazolamide decreases FZT in up to half of the children and young-adults with XLRS or DCMD, and that this effect is already visible within one month in the majority of patients. Further examination will be necessary to study long-term benefit in preserving and restoring normal retinal anatomy in relation to side effects.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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