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The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis
Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. C...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137664/ https://www.ncbi.nlm.nih.gov/pubmed/37107549 http://dx.doi.org/10.3390/genes14040791 |
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author | Musleh, Mohammud Bull, Adam Linton, Emma Liu, Jingshu Waller, Sarah Hardcastle, Claire Clayton-Smith, Jill Sharma, Vinod Black, Graeme C. Biswas, Susmito Ashworth, Jane L. Sergouniotis, Panagiotis I. |
author_facet | Musleh, Mohammud Bull, Adam Linton, Emma Liu, Jingshu Waller, Sarah Hardcastle, Claire Clayton-Smith, Jill Sharma, Vinod Black, Graeme C. Biswas, Susmito Ashworth, Jane L. Sergouniotis, Panagiotis I. |
author_sort | Musleh, Mohammud |
collection | PubMed |
description | Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis. |
format | Online Article Text |
id | pubmed-10137664 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-101376642023-04-28 The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis Musleh, Mohammud Bull, Adam Linton, Emma Liu, Jingshu Waller, Sarah Hardcastle, Claire Clayton-Smith, Jill Sharma, Vinod Black, Graeme C. Biswas, Susmito Ashworth, Jane L. Sergouniotis, Panagiotis I. Genes (Basel) Communication Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis. MDPI 2023-03-25 /pmc/articles/PMC10137664/ /pubmed/37107549 http://dx.doi.org/10.3390/genes14040791 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 | Communication Musleh, Mohammud Bull, Adam Linton, Emma Liu, Jingshu Waller, Sarah Hardcastle, Claire Clayton-Smith, Jill Sharma, Vinod Black, Graeme C. Biswas, Susmito Ashworth, Jane L. Sergouniotis, Panagiotis I. The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title_full | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title_fullStr | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title_full_unstemmed | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title_short | The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis |
title_sort | role of genetic testing in children requiring surgery for ectopia lentis |
topic | Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137664/ https://www.ncbi.nlm.nih.gov/pubmed/37107549 http://dx.doi.org/10.3390/genes14040791 |
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