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- DOI 10.18231/j.ijceo.v.11.i.3.33
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CrossMark
Treating x-linked retinoschisis with topical dorzolamide: A case report from Jamnagar
- Author Details:
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Parth Prahladbhai Prajapati *
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Anurag Ekka
Parth Prahladbhai Prajapati *
Eleven years old boy presented with complaint of dimnison of vision in school. On visual examination right eye best corrected visual acuity (BCVA) was 6/18 and left eye BCVA was 6/24.On fundoscopic examination patient had foveal schisis, noted as a spoke wheel pattern radiating from the fovea and a domelike elevation of a thin layer of retina. On Spectral-domain optical coherence tomography (SD-OCT) showed right eye central macular thickness (CMT) was 554μm and left eye CMT was 617μm.The patient was prescribed 2% dorzolamide hydrochloride eye drops in thrice-daily dosing. At 6 months follow-up, BCVA improved to 6/12 in right eye and 6/18 in left eye. SD- OCT showed reduction in foveal schisis and CMT decreased to 161μm and 189μm in right and left eye, respectively.
References
- George ND, Yates JR, Moore AT. X linked retinoschisis. Br J Ophthalmol. 1995;79(7):697-702.
- Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17(2):164–70.
- Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol. 2004;49(2):214–30.
- The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet. 1998;7(7):1185–92.
- Bradshaw K, George N, Moore A, Trump D. Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol. 1999;98(2):153–73.
- Eriksson U, Larsson E, Holmström G. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand. 2004;82(2):218–3.
- Khandhadia S, Trump D, Menon G, Lotery AJ. X -linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye (Lond). 2011;25(7):922–8.
- Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, et al. Retinal AAV8-RS1 gene therapy for X-linked retinoschisis: initial findings from a phase I/IIa trial by intravitreal delivery. Mol Ther. 2018;26(9):2282–94.
- Genead MA, Fishman GA, Walia S. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X- linked retinoschisis. Arch Ophthalmol. 2010;128(2):190–7.
- Thobani A, Fishman GA. The use of carbonic anhydrase inhibitors in the retreatment of cystic macular lesions in retinitis pigmentosa and X-linked retinoschisis. Retina. 2011;31(2):312–5.
- Yanoff M, Kertesz Rahn E, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol. 1968;79(1):49–53.
- Wolfensberger TJ. The role of carbonic anhydrase inhibitors in the management of macula edema. Doc Ophthalmol. 1999;97(3- 4):387–7.
- Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, et al. RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2004;45(9):3279–85.
- Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther. 2005;12(4):644–51.