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The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide
Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in respons...
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/PMC10572658/ https://www.ncbi.nlm.nih.gov/pubmed/37835784 http://dx.doi.org/10.3390/diagnostics13193041 |
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author | Yang, Tsai-Hsuan Kang, Eugene Yu-Chuan Lin, Pei-Hsuan Wu, Pei-Liang Sachs, Jacob Aaron Wang, Nan-Kai |
author_facet | Yang, Tsai-Hsuan Kang, Eugene Yu-Chuan Lin, Pei-Hsuan Wu, Pei-Liang Sachs, Jacob Aaron Wang, Nan-Kai |
author_sort | Yang, Tsai-Hsuan |
collection | PubMed |
description | Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing. |
format | Online Article Text |
id | pubmed-10572658 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-105726582023-10-14 The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide Yang, Tsai-Hsuan Kang, Eugene Yu-Chuan Lin, Pei-Hsuan Wu, Pei-Liang Sachs, Jacob Aaron Wang, Nan-Kai Diagnostics (Basel) Review Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing. MDPI 2023-09-25 /pmc/articles/PMC10572658/ /pubmed/37835784 http://dx.doi.org/10.3390/diagnostics13193041 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 | Review Yang, Tsai-Hsuan Kang, Eugene Yu-Chuan Lin, Pei-Hsuan Wu, Pei-Liang Sachs, Jacob Aaron Wang, Nan-Kai The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title | The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title_full | The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title_fullStr | The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title_full_unstemmed | The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title_short | The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide |
title_sort | value of electroretinography in identifying candidate genes for inherited retinal dystrophies: a diagnostic guide |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572658/ https://www.ncbi.nlm.nih.gov/pubmed/37835784 http://dx.doi.org/10.3390/diagnostics13193041 |
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