The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

被引:3
|
作者
Yang, Tsai-Hsuan [1 ,2 ]
Kang, Eugene Yu-Chuan [3 ,4 ,5 ]
Lin, Pei-Hsuan [6 ,7 ]
Wu, Pei-Liang [7 ,8 ]
Sachs, Jacob Aaron [7 ,9 ]
Wang, Nan-Kai [3 ,4 ,7 ,10 ]
机构
[1] Chang Gung Mem Hosp, Linkou Med Ctr, Dept Educ, Taoyuan 33305, Taiwan
[2] Natl Yang Ming Chiao Tung Univ, Coll Med, Taipei 11217, Taiwan
[3] Chang Gung Mem Hosp, Linkou Med Ctr, Dept Cardiol, Taoyuan 33305, Taiwan
[4] Chang Gung Univ, Coll Med, Taoyuan 33302, Taiwan
[5] Chang Gung Univ, Grad Inst Clin Med Sci, Coll Med, Taoyuan 33302, Taiwan
[6] Natl Taiwan Univ Hosp, Yunlin 640203, Taiwan
[7] Columbia Univ, Edward S Harkness Eye Inst, Irving Med Ctr, Dept Ophthalmol, New York, NY 10032 USA
[8] Natl Taiwan Univ, Dept Med, Taipei 10617, Taiwan
[9] Univ Miami, Coll Arts & Sci, Coral Gables, FL 33146 USA
[10] Columbia Univ, Vagelos Coll Phys & Surg, New York, NY 10032 USA
关键词
electroretinography; inherited retinal dystrophies; electronegative ERG; congenital stationary night blindness; X-linked retinoschisis; cone-rod dystrophies; fundus albipunctatus; enhanced S-cone syndrome; cone dystrophy with supernormal rod response; X-LINKED RETINOSCHISIS; RETINITIS PUNCTATA ALBESCENS; CONE-ROD DYSTROPHY; HOMEOBOX GENE; HETEROZYGOUS MUTATION; FUNDUS-ALBIPUNCTATUS; CARBONIC-ANHYDRASE; MOUSE MODEL; PROTEIN; NR2E3;
D O I
10.3390/diagnostics13193041
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:23
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