Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. T...

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Autores principales: Selvan, Harathy, Sharma, Anshul, Birla, Shweta, Gupta, Shikha, Somarajan, Bindu I, Gupta, Viney, Sharma, Arundhati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611297/
https://www.ncbi.nlm.nih.gov/pubmed/31238476
http://dx.doi.org/10.4103/ijo.IJO_1407_18
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author Selvan, Harathy
Sharma, Anshul
Birla, Shweta
Gupta, Shikha
Somarajan, Bindu I
Gupta, Viney
Sharma, Arundhati
author_facet Selvan, Harathy
Sharma, Anshul
Birla, Shweta
Gupta, Shikha
Somarajan, Bindu I
Gupta, Viney
Sharma, Arundhati
author_sort Selvan, Harathy
collection PubMed
description A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.
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spelling pubmed-66112972019-07-22 Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma Selvan, Harathy Sharma, Anshul Birla, Shweta Gupta, Shikha Somarajan, Bindu I Gupta, Viney Sharma, Arundhati Indian J Ophthalmol Case Reports A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family. Wolters Kluwer - Medknow 2019-07 /pmc/articles/PMC6611297/ /pubmed/31238476 http://dx.doi.org/10.4103/ijo.IJO_1407_18 Text en Copyright: © 2019 Indian Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Reports
Selvan, Harathy
Sharma, Anshul
Birla, Shweta
Gupta, Shikha
Somarajan, Bindu I
Gupta, Viney
Sharma, Arundhati
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title_full Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title_fullStr Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title_full_unstemmed Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title_short Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
title_sort molecular characterization of a rare phenotype of x-linked retinoschisis with angle-closure glaucoma
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611297/
https://www.ncbi.nlm.nih.gov/pubmed/31238476
http://dx.doi.org/10.4103/ijo.IJO_1407_18
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