To report the results of an acetazolamide (Diamox®) treatment regimen in a genetically confirmed case of X-linked juvenile retinoschisis (XLRS).
A patient with XLRS was prescribed acetazolamide (Diamox®) at a dose of 500 mg/day, then discontinued the treatment due to non-compliance for 4 days, and finally resumed the course of treatment. Best-corrected visual acuity, retinal structure, and function were monitored with autofluorescence, spectral domain-optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), and full-field electroretinogram (ERG). Full-field ERG was performed using DTL recording electrodes and Ganzfeld stimulation according to ISCEV standards.
Serial monitoring of the cysts by SD-OCT revealed a strong association between the effects of acetazolamide administration and the size of the schisis. A reduction in foveal cyst size was significant in as rapid as 6 days after acetazolamide initiation. AOSLO data revealed that the resolution of cone cell images improves as the foveal schisis decreases in size.
Efficacy of acetazolamide in patients with XLRS can be apparent in as rapid as a week of therapy. AOSLO can be a good method to evaluate the cone cells after acetazolamide treatment in the early stages of XLRS.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
George ND, Yates JR, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 79(7):697–702
Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA (2004) X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol 49(2):214–230. doi:10.1016/j.survophthal.2003.12.007
Gregori NZ, Berrocal AM, Gregori G, Murray TG, Knighton RW, Flynn HW Jr, Dubovy S, Puliafito CA, Rosenfeld PJ (2009) Macular spectral-domain optical coherence tomography in patients with X linked retinoschisis. Br J Ophthalmol 93(3):373–378. doi:10.1136/bjo.2007.136127
Tsang SH, Vaclavik V, Bird AC, Robson AG, Holder GE (2007) Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol 125(2):259–267. doi:10.1001/archopht.125.2.259
Wu WW, Wong JP, Kast J, Molday RS (2005) RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem 280(11):10721–10730. doi:10.1074/jbc.M413117200
Madachi-Yamamoto S, Yonemura D, Kawasaki K (1984) Diamox response of ocular standing potential as a clinical test for retinal pigment epithelium activity. Normal subjects. Nihon Ganka Gakkai Zasshi 88(10):1267–1272
Kawasaki K, Mukoh S, Yonemura D, Fujii S, Segawa Y (1986) Acetazolamide-induced changes of the membrane potentials of the retinal pigment epithelial cell. Doc Ophthalmol 63(4):375–381
Sternberg P Jr, Fitzke F, Finkelstein D (1982) Cyclic macular edema. Am J Ophthalmol 94(5):664–669
Fishman GA, Gilbert LD, Anderson RJ, Marmor MF, Weleber RG, Viana MA (1994) Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa. Ophthalmology 101(4):687–693
Grover S, Apushkin MA, Fishman GA (2006) Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol 141(5):850–858. doi:10.1016/j.ajo.2005.12.030
Grover S, Fishman GA, Fiscella RG, Adelman AE (1997) Efficacy of dorzolamide hydrochloride in the management of chronic cystoid macular edema in patients with retinitis pigmentosa. Retina 17(3):222–231
Cox SN, Hay E, Bird AC (1988) Treatment of chronic macular edema with acetazolamide. Arch Ophthalmol 106(9):1190–1195
Wolfensberger TJ (1999) The role of carbonic anhydrase inhibitors in the management of macular edema. Doc Ophthalmol 97(3–4):387–397
Apushkin MA, Fishman GA, Janowicz MJ (2004) Monitoring cystoid macular edema by optical coherence tomography in patients with retinitis pigmentosa. Ophthalmology 111(10):1899–1904. doi:10.1016/j.ophtha.2004.04.019
Fishman GA, Glenn AM, Gilbert LD (1993) Rebound of macular edema with continued use of methazolamide in patients with retinitis pigmentosa. Arch Ophthalmol 111(12):1640–1646
Ghajarnia M, Gorin MB (2007) Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol 125(4):571–573. doi:10.1001/archopht.125.4.571
Thobani A, Fishman GA (2011) The use of carbonic anhydrase inhibitors in the retreatment of cystic macular lesions in retinitis pigmentosa and X-linked retinoschisis. Retina 31(2):312–315. doi:10.1097/IAE.0b013e3181e587f9
Bae EJ, Kim KR, Tsang SH, Park SP, Chang S (2014) Retinal damage in chloroquine maculopathy, revealed by high resolution imaging: a case report utilizing adaptive optics scanning laser ophthalmoscopy. Korean J Ophthalmol 28(1):100–107. doi:10.3341/kjo.2014.28.1.100
Hong IH, Park SP, Chen CL, Kim HK, Tsang SH, Chang S (2014) Cone photoreceptor abnormalities correlate with vision loss in a case of acute posterior multifocal placoid pigment epitheliopathy. Ophthalmic Surg Lasers Imaging Retina 45(1):74–78. doi:10.3928/23258160-20131220-12
Park SP, Hong IH, Tsang SH, Lee W, Horowitz J, Yzer S, Allikmets R, Chang S (2013) Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults. Graefes Arch Clin Exp Ophthalmol 251(10):2299–2309. doi:10.1007/s00417-013-2296-5
Park SP, Hong IH, Tsang SH, Chang S (2013) Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene. Eur J Hum Genet 21(11):1240–1248. doi:10.1038/ejhg.2013.21
Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A (2011) Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci 52(13):9614–9623. doi:10.1167/iovs.11-8600
This study was supported, in part, by the NIH Minority Access to Research Careers Grant T34 GM008718. Imaging facilities are supported by P30EY019007 from Core Support for Vision Research, NEI; C026448 from New York Stem Cell Science; the Macula Foundation Inc; and unrestricted funds from Research to Prevent Blindness. S. H. T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, NIH R01EY018213, the Research to Prevent Blindness Physician-Scientist Award, the Schneeweiss Stem Cell Fund, New York State (N09G-302 and N13G-275), the Foundation Fighting Blindness New York Regional Research Center Grant (C-NY05-0705-0312), the Joel Hoffman Fund, the Charles Culpeper Scholarship, the Laszlo Bito and Olivia Carino Foundation, Justin A. Manus, Kobi and Nancy Karp, Professor Gertrude Rothschild Stem Cell Foundation, and the Gebroe Family Foundation.
Conflict of interest
About this article
Cite this article
Zhang, L., Reyes, R., Lee, W. et al. Rapid resolution of retinoschisis with acetazolamide. Doc Ophthalmol 131, 63–70 (2015). https://doi.org/10.1007/s10633-015-9496-8