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Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. It can be associated with various ocular and systemic abnormalities. D...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8109038/ https://www.ncbi.nlm.nih.gov/pubmed/33951899 http://dx.doi.org/10.4274/tjo.galenos.2020.08377 |
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author | Taylan Şekeroğlu, Hande Utine, Gülen Eda |
author_facet | Taylan Şekeroğlu, Hande Utine, Gülen Eda |
author_sort | Taylan Şekeroğlu, Hande |
collection | PubMed |
description | Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. It can be associated with various ocular and systemic abnormalities. Determining whether congenital cataract is isolated or associated with other pathology is an indispensable step for the prediction of potential vision as well as early diagnosis and treatment of conditions that can cause morbidity or mortality. Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. Determination of the genetic cause may not only enable individualized genetic counseling but also help to identify concomitant ocular and/or systemic disorders depending on the characteristics of the genetic test used. Recently, next-generation sequencing in particular has become an evolving technology for determining the molecular etiology of congenital cataract and furthering our knowledge of the disease. |
format | Online Article Text |
id | pubmed-8109038 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-81090382021-05-17 Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing Taylan Şekeroğlu, Hande Utine, Gülen Eda Turk J Ophthalmol Review Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. It can be associated with various ocular and systemic abnormalities. Determining whether congenital cataract is isolated or associated with other pathology is an indispensable step for the prediction of potential vision as well as early diagnosis and treatment of conditions that can cause morbidity or mortality. Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. Determination of the genetic cause may not only enable individualized genetic counseling but also help to identify concomitant ocular and/or systemic disorders depending on the characteristics of the genetic test used. Recently, next-generation sequencing in particular has become an evolving technology for determining the molecular etiology of congenital cataract and furthering our knowledge of the disease. Galenos Publishing 2021-04 2021-04-29 /pmc/articles/PMC8109038/ /pubmed/33951899 http://dx.doi.org/10.4274/tjo.galenos.2020.08377 Text en © Copyright 2021 by Turkish Ophthalmological Association | Turkish Journal of Ophthalmology, published by Galenos Publishing House. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Taylan Şekeroğlu, Hande Utine, Gülen Eda Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title | Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title_full | Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title_fullStr | Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title_full_unstemmed | Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title_short | Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing |
title_sort | congenital cataract and its genetics: the era of next-generation sequencing |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8109038/ https://www.ncbi.nlm.nih.gov/pubmed/33951899 http://dx.doi.org/10.4274/tjo.galenos.2020.08377 |
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