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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...

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Autores principales: Yang, Tsai-Hsuan, Kang, Eugene Yu-Chuan, Lin, Pei-Hsuan, Wu, Pei-Liang, Sachs, Jacob Aaron, Wang, Nan-Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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