Literature DB >> 24138048

X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.

David Y Kim1, Shizuo Mukai.   

Abstract

X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males. To date, more than 196 different mutations of the RS1 gene have been associated with XLRS. The mutation spectrum is large and the phenotype variable. This review will focus on the clinical features of XLRS and examine the relationship between phenotype and genotype.

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Year:  2013        PMID： 24138048     DOI： 10.3109/08820538.2013.825299

Source DB:  PubMed          Journal:  Semin Ophthalmol        ISSN： 0882-0538            Impact factor:   1.975


  11 in total

1.  Swept-source and optical coherence tomography angiography in patients with X-linked retinoschisis.

Authors:  N Padrón-Pérez; J Català-Mora; J Díaz; L Arias; J Prat; J M Caminal
Journal:  Eye (Lond)       Date:  2018-01-05       Impact factor: 3.775

2.  Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.

Authors:  Annalisa Nicoletti; Lucia Ziccardi; Paolo Enrico Maltese; Sabrina Benedetti; Orazio Palumbo; Michelina Rendina; Leonardo D'Agruma; Benedetto Falsini; Xinjing Wang; Matteo Bertelli
Journal:  Genet Test Mol Biomarkers       Date:  2016-12-20

3.  Compendium of causative genes and their encoded proteins for common monogenic disorders.

Authors:  Tucker L Apgar; Charles R Sanders
Journal:  Protein Sci       Date:  2021-09-21       Impact factor: 6.993

4.  RS1 gene is a novel prognostic biomarker for lung adenocarcinoma.

Authors:  Tao Zhang; Guowei Cheng; Ping Chen; Yue Peng; Lei Liu; Runze Li; Bin Qiu
Journal:  Thorac Cancer       Date:  2022-05-15       Impact factor: 3.223

5.  Optical Coherence Tomography Evolution in a Case of X-Linked Juvenile Retinoschisis: 15 Years of Follow-Up.

Authors:  Irini Chatziralli; George Theodossiadis; Dimitrios Brouzas; Ioannis Emfietzoglou; Panagiotis Theodossiadis
Journal:  Case Rep Ophthalmol       Date:  2017-09-14

6.  A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.

Authors:  Eung Suk Lee; Mi Ae Jang; Hoon Dong Kim; Jong Eun Park; Jong Won Kim; Young Hoon Ohn
Journal:  Ann Lab Med       Date:  2019-01       Impact factor: 3.464

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

Authors:  Harathy Selvan; Anshul Sharma; Shweta Birla; Shikha Gupta; Bindu I Somarajan; Viney Gupta; Arundhati Sharma
Journal:  Indian J Ophthalmol       Date:  2019-07       Impact factor: 1.848

Review 8.  Outcome measures in juvenile X-linked retinoschisis: A systematic review.

Authors:  John R Grigg; Claire Y Hooper; Clare L Fraser; Elisa E Cornish; Peter J McCluskey; Robyn V Jamieson
Journal:  Eye (Lond)       Date:  2020-04-20       Impact factor: 3.775

9.  Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.

Authors:  Chunjie Chen; Yue Xie; Tengyang Sun; Lu Tian; Ke Xu; Xiaohui Zhang; Yang Li
Journal:  Mol Vis       Date:  2020-04-11       Impact factor: 2.367

10.  Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery.

Authors:  Camasamudram Vijayasarathy; Yong Zeng; Matthew J Brooks; Robert N Fariss; Paul A Sieving
Journal:  Hum Gene Ther       Date:  2020-12-14       Impact factor: 5.695
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