A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female...

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Autores principales: Kirkby, Jennifer, Halford, Stephanie, Shanks, Morag, Moore, Anthony, Gait, Anthony, Jenkins, Lucy, Clouston, Penny, Patel, Chetan K., Downes, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298380/
https://www.ncbi.nlm.nih.gov/pubmed/37372373
http://dx.doi.org/10.3390/genes14061193
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author Kirkby, Jennifer
Halford, Stephanie
Shanks, Morag
Moore, Anthony
Gait, Anthony
Jenkins, Lucy
Clouston, Penny
Patel, Chetan K.
Downes, Susan M.
author_facet Kirkby, Jennifer
Halford, Stephanie
Shanks, Morag
Moore, Anthony
Gait, Anthony
Jenkins, Lucy
Clouston, Penny
Patel, Chetan K.
Downes, Susan M.
author_sort Kirkby, Jennifer
collection PubMed
description X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.
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spelling pubmed-102983802023-06-28 A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation Kirkby, Jennifer Halford, Stephanie Shanks, Morag Moore, Anthony Gait, Anthony Jenkins, Lucy Clouston, Penny Patel, Chetan K. Downes, Susan M. Genes (Basel) Article X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS. MDPI 2023-05-29 /pmc/articles/PMC10298380/ /pubmed/37372373 http://dx.doi.org/10.3390/genes14061193 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kirkby, Jennifer
Halford, Stephanie
Shanks, Morag
Moore, Anthony
Gait, Anthony
Jenkins, Lucy
Clouston, Penny
Patel, Chetan K.
Downes, Susan M.
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title_full A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title_fullStr A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title_full_unstemmed A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title_short A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
title_sort carrier female manifesting an unusual x-linked retinoschisis phenotype associated with the pathogenic variant c.266dela, p.(tyr89leufster37) in rs1, and skewed x-inactivation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298380/
https://www.ncbi.nlm.nih.gov/pubmed/37372373
http://dx.doi.org/10.3390/genes14061193
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