Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family

Maria Silvana Galantuomo,1,* Maurizio Fossarello,1 Alberto Cuccu,1 Roberta Farci,1 Markus N Preising,2 Birgit Lorenz,2 Pietro Emanuele Napoli1,* 1Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy; 2Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-Un...

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Autores principales:	Galantuomo MS, Fossarello M, Cuccu A, Farci R, Preising MN, Lorenz B, Napoli PE
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2016
Materias:	Juvenile X-linked Retinoschisis oral acetazolamide topical dorzolamide cystoid macular edema macular schisis foveal zone thickness. Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/502868b080c4414c944705ed67631caf
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spelling	oai:doaj.org-article:502868b080c4414c944705ed67631caf2021-12-02T02:39:55ZRebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family1177-5483https://doaj.org/article/502868b080c4414c944705ed67631caf2016-11-01T00:00:00Zhttps://www.dovepress.com/rebound-macular-edema-following-oral-acetazolamide-therapy-for-juvenil-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Maria Silvana Galantuomo,1,* Maurizio Fossarello,1 Alberto Cuccu,1 Roberta Farci,1 Markus N Preising,2 Birgit Lorenz,2 Pietro Emanuele Napoli1,* 1Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy; 2Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-University, Giessen, Germany *These authors contributed equally to this work Background: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. Purpose: The purposes of this study were to present, for the first time, a p.Arg197Cys missense mutation in the RS1 gene (OMIM: 300839) in a four-generation Italian family with RS1 and to examine the clinical response to the treatment with acetazolamide tablets alone or in combination with dorzolamide eye drops as assessed by spectral-domain optical coherence tomography (SD-OCT). Methods: Eleven individuals, including two brothers with RS1 (patients 1 and 2), underwent a full medical history examination and a comprehensive ocular assessment that involved SD-OCT, fluorescein angiography, electroretinography and DNA analysis. Each RS1 patient received oral acetazolamide (375 mg daily) during the first three months. Thereafter, patient 1 continued only with dorzolamide eyedrops three times a day for a period of three months, while patient 2 spontaneously stopped both medications. Results: Sequence analysis of the RS1 gene identified a hemizygous c.589C>T (p.Arg197Cys) missense mutation in exon 6, which has not been previously reported in an Italian family. A different response to the medical therapy was observed in the four eyes of the two affected brothers hemizygous for this abnormality. Of note, after acetazolamide interruption, a rebound effect on cystoid macular edema reduced the beneficial effects of the initial therapy for RS1 from p.Arg197Cys mutation. Indeed, a minimal rebound effect on cystoid macular edema, and an improvement in visual acuity, was observed in patient 1 during the six months of treatment. Conversely, in patient 2, an initial improvement in cystoid macular edema was not associated with visual acuity changes, followed by a marked rebound effect. Conclusion: This study showed that the sequential use of acetazolamide tablets and dorzolamide eye drops should be considered and studied further as a possible treatment for macular edema and visual impairment in patients with RS1 from a hemizygous p.Arg197Cys mutation. Keywords: juvenile X-linked retinoschisis, oral acetazolamide, topical dorzolamide, cystoid macular edema, macular schisis, foveal zone thicknessGalantuomo MSFossarello MCuccu AFarci RPreising MNLorenz BNapoli PEDove Medical PressarticleJuvenile X-linked Retinoschisisoral acetazolamidetopical dorzolamidecystoid macular edemamacular schisisfoveal zone thickness.OphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 10, Pp 2377-2382 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Juvenile X-linked Retinoschisis oral acetazolamide topical dorzolamide cystoid macular edema macular schisis foveal zone thickness. Ophthalmology RE1-994
spellingShingle	Juvenile X-linked Retinoschisis oral acetazolamide topical dorzolamide cystoid macular edema macular schisis foveal zone thickness. Ophthalmology RE1-994 Galantuomo MS Fossarello M Cuccu A Farci R Preising MN Lorenz B Napoli PE Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
description	Maria Silvana Galantuomo,1,* Maurizio Fossarello,1 Alberto Cuccu,1 Roberta Farci,1 Markus N Preising,2 Birgit Lorenz,2 Pietro Emanuele Napoli1,* 1Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy; 2Department of Ophthalmology, Faculty of Medicine, Justus-Liebig-University, Giessen, Germany *These authors contributed equally to this work Background: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. Purpose: The purposes of this study were to present, for the first time, a p.Arg197Cys missense mutation in the RS1 gene (OMIM: 300839) in a four-generation Italian family with RS1 and to examine the clinical response to the treatment with acetazolamide tablets alone or in combination with dorzolamide eye drops as assessed by spectral-domain optical coherence tomography (SD-OCT). Methods: Eleven individuals, including two brothers with RS1 (patients 1 and 2), underwent a full medical history examination and a comprehensive ocular assessment that involved SD-OCT, fluorescein angiography, electroretinography and DNA analysis. Each RS1 patient received oral acetazolamide (375 mg daily) during the first three months. Thereafter, patient 1 continued only with dorzolamide eyedrops three times a day for a period of three months, while patient 2 spontaneously stopped both medications. Results: Sequence analysis of the RS1 gene identified a hemizygous c.589C>T (p.Arg197Cys) missense mutation in exon 6, which has not been previously reported in an Italian family. A different response to the medical therapy was observed in the four eyes of the two affected brothers hemizygous for this abnormality. Of note, after acetazolamide interruption, a rebound effect on cystoid macular edema reduced the beneficial effects of the initial therapy for RS1 from p.Arg197Cys mutation. Indeed, a minimal rebound effect on cystoid macular edema, and an improvement in visual acuity, was observed in patient 1 during the six months of treatment. Conversely, in patient 2, an initial improvement in cystoid macular edema was not associated with visual acuity changes, followed by a marked rebound effect. Conclusion: This study showed that the sequential use of acetazolamide tablets and dorzolamide eye drops should be considered and studied further as a possible treatment for macular edema and visual impairment in patients with RS1 from a hemizygous p.Arg197Cys mutation. Keywords: juvenile X-linked retinoschisis, oral acetazolamide, topical dorzolamide, cystoid macular edema, macular schisis, foveal zone thickness
format	article
author	Galantuomo MS Fossarello M Cuccu A Farci R Preising MN Lorenz B Napoli PE
author_facet	Galantuomo MS Fossarello M Cuccu A Farci R Preising MN Lorenz B Napoli PE
author_sort	Galantuomo MS
title	Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
title_short	Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
title_full	Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
title_fullStr	Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
title_full_unstemmed	Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
title_sort	rebound macular edema following oral acetazolamide therapy for juvenile x-linked retinoschisis in an italian family
publisher	Dove Medical Press
publishDate	2016
url	https://doaj.org/article/502868b080c4414c944705ed67631caf
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Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family

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