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01-08-2015 | Clinical Case Report

Rapid resolution of retinoschisis with acetazolamide

Authors: Lijuan Zhang, Roberto Reyes, Winston Lee, Ching-Lung Chen, Lawrence Chan, Tharikarn Sujirakul, Stanley Chang, Stephen H. Tsang

Published in: Documenta Ophthalmologica | Issue 1/2015

Abstract

Purpose

To report the results of an acetazolamide (Diamox^®) treatment regimen in a genetically confirmed case of X-linked juvenile retinoschisis (XLRS).

Methods

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.

Results

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.

Conclusions

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.

George ND, Yates JR, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 79(7):697–702PubMedCentralPubMedCrossRef

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 PubMedCrossRef

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 PubMedCrossRef

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 PubMedCentralPubMedCrossRef

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 PubMedCrossRef

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):1267–1272PubMed

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):375–381PubMed

Sternberg P Jr, Fitzke F, Finkelstein D (1982) Cyclic macular edema. Am J Ophthalmol 94(5):664–669PubMedCrossRef

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):687–693PubMedCrossRef

10.

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 PubMedCrossRef

11.

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):222–231PubMedCrossRef

12.

Cox SN, Hay E, Bird AC (1988) Treatment of chronic macular edema with acetazolamide. Arch Ophthalmol 106(9):1190–1195PubMedCrossRef

13.

Wolfensberger TJ (1999) The role of carbonic anhydrase inhibitors in the management of macular edema. Doc Ophthalmol 97(3–4):387–397PubMedCrossRef

14.

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 PubMedCrossRef

15.

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):1640–1646PubMedCrossRef

16.

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 PubMedCrossRef

17.

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 PubMedCentralPubMedCrossRef

18.

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 PubMedCentralPubMedCrossRef

19.

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 PubMedCentralPubMedCrossRef

20.

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 PubMedCentralPubMedCrossRef

21.

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 CrossRef

22.

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 PubMedCentralPubMedCrossRef

Title: Rapid resolution of retinoschisis with acetazolamide
Authors: Lijuan Zhang
Roberto Reyes
Winston Lee
Ching-Lung Chen
Lawrence Chan
Tharikarn Sujirakul
Stanley Chang
Stephen H. Tsang
Publication date: 01-08-2015
Publisher: Springer Berlin Heidelberg
Published in: Documenta Ophthalmologica / Issue 1/2015
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-015-9496-8

At a glance: The STEP trials

Springer Medicine

Rapid resolution of retinoschisis with acetazolamide

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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