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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Indian Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=7;spage=1226;epage=1229;aulast= |
| _version_ | 1818359294843682816 |
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| author | Harathy Selvan Anshul Sharma Shweta Birla Shikha Gupta Bindu I Somarajan Viney Gupta Arundhati Sharma |
| author_facet | Harathy Selvan Anshul Sharma Shweta Birla Shikha Gupta Bindu I Somarajan Viney Gupta Arundhati Sharma |
| author_sort | Harathy Selvan |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T20:42:37Z |
| format | Article |
| id | doaj.art-a2c9a5f5c673404a9021b087a9ba9c2e |
| institution | Directory Open Access Journal |
| issn | 0301-4738 1998-3689 |
| language | English |
| last_indexed | 2024-12-13T20:42:37Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Ophthalmology |
| spelling | doaj.art-a2c9a5f5c673404a9021b087a9ba9c2e2022-12-21T23:32:06ZengWolters Kluwer Medknow PublicationsIndian Journal of Ophthalmology0301-47381998-36892019-01-016771226122910.4103/ijo.IJO_1407_18Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucomaHarathy SelvanAnshul SharmaShweta BirlaShikha GuptaBindu I SomarajanViney GuptaArundhati SharmaA 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.http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=7;spage=1226;epage=1229;aulast=Angle-closure glaucomadorzolamidefoveoschisisRS1 mutationX-linked retinoschisis |
| spellingShingle | Harathy Selvan Anshul Sharma Shweta Birla Shikha Gupta Bindu I Somarajan Viney Gupta Arundhati Sharma Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma Indian Journal of Ophthalmology Angle-closure glaucoma dorzolamide foveoschisis RS1 mutation X-linked retinoschisis |
| 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 | Angle-closure glaucoma dorzolamide foveoschisis RS1 mutation X-linked retinoschisis |
| url | http://www.ijo.in/article.asp?issn=0301-4738;year=2019;volume=67;issue=7;spage=1226;epage=1229;aulast= |
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