{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:44:37Z","timestamp":1790811877236,"version":"4.1.0"},"reference-count":106,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T00:00:00Z","timestamp":1695600000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institute of Health","award":["R01EY031354"],"award-info":[{"award-number":["R01EY031354"]}]},{"name":"National Institute of Health","award":["P30EY019007"],"award-info":[{"award-number":["P30EY019007"]}]},{"name":"Vagelos College of Physicians &amp; Surgeons (VP&amp;S) Grants Gerstner Philanthropies","award":["R01EY031354"],"award-info":[{"award-number":["R01EY031354"]}]},{"name":"Vagelos College of Physicians &amp; Surgeons (VP&amp;S) Grants Gerstner Philanthropies","award":["P30EY019007"],"award-info":[{"award-number":["P30EY019007"]}]},{"name":"Department of Ophthalmology, Columbia University","award":["R01EY031354"],"award-info":[{"award-number":["R01EY031354"]}]},{"name":"Department of Ophthalmology, Columbia University","award":["P30EY019007"],"award-info":[{"award-number":["P30EY019007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/diagnostics13193041","type":"journal-article","created":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T03:56:49Z","timestamp":1695614209000},"page":"3041","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5932-611X","authenticated-orcid":false,"given":"Tsai-Hsuan","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Education, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan"},{"name":"College of Medicine, National Yang Ming Chiao Tung University, Taipei 11217, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6814-6530","authenticated-orcid":false,"given":"Eugene Yu-Chuan","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan"},{"name":"College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"},{"name":"Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Hsuan","family":"Lin","sequence":"additional","affiliation":[{"name":"National Taiwan University Hospital, Yunlin 640203, Taiwan"},{"name":"Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Liang","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, NY 10032, USA"},{"name":"Department of Medicine, National Taiwan University, Taipei 10617, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob Aaron","family":"Sachs","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, NY 10032, USA"},{"name":"College of Arts and Sciences, University of Miami, Coral Gables, FL 33146, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6277-9879","authenticated-orcid":false,"given":"Nan-Kai","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan"},{"name":"College of Medicine, Chang Gung University, Taoyuan 33302, Taiwan"},{"name":"Department of Ophthalmology, Edward S. 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