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Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family
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 de...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Dove Medical Press
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135400/ https://www.ncbi.nlm.nih.gov/pubmed/27932860 http://dx.doi.org/10.2147/OPTH.S114568 |
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author | Galantuomo, Maria Silvana Fossarello, Maurizio Cuccu, Alberto Farci, Roberta Preising, Markus N Lorenz, Birgit Napoli, Pietro Emanuele |
author_facet | Galantuomo, Maria Silvana Fossarello, Maurizio Cuccu, Alberto Farci, Roberta Preising, Markus N Lorenz, Birgit Napoli, Pietro Emanuele |
author_sort | Galantuomo, Maria Silvana |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5135400 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-51354002016-12-08 Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family Galantuomo, Maria Silvana Fossarello, Maurizio Cuccu, Alberto Farci, Roberta Preising, Markus N Lorenz, Birgit Napoli, Pietro Emanuele Clin Ophthalmol Original Research 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. Dove Medical Press 2016-11-25 /pmc/articles/PMC5135400/ /pubmed/27932860 http://dx.doi.org/10.2147/OPTH.S114568 Text en © 2016 Galantuomo et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
spellingShingle | Original Research Galantuomo, Maria Silvana Fossarello, Maurizio Cuccu, Alberto Farci, Roberta Preising, Markus N Lorenz, Birgit Napoli, Pietro Emanuele Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family |
title | 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_short | 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 |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5135400/ https://www.ncbi.nlm.nih.gov/pubmed/27932860 http://dx.doi.org/10.2147/OPTH.S114568 |
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