TY - JOUR
T1 - The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies
T2 - A Diagnostic Guide
AU - Yang, Tsai Hsuan
AU - Kang, Eugene Yu Chuan
AU - Lin, Pei Hsuan
AU - Wu, Pei Liang
AU - Sachs, Jacob Aaron
AU - Wang, Nan Kai
N1 - Publisher Copyright:
© 2023 by the authors.
PY - 2023/9/25
Y1 - 2023/9/25
N2 - 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.
AB - 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.
KW - X-linked retinoschisis
KW - cone dystrophy with supernormal rod response
KW - cone–rod dystrophies
KW - congenital stationary night blindness
KW - electronegative ERG
KW - electroretinography
KW - enhanced S-cone syndrome
KW - fundus albipunctatus
KW - inherited retinal dystrophies
UR - http://www.scopus.com/inward/record.url?scp=85173802267&partnerID=8YFLogxK
U2 - 10.3390/diagnostics13193041
DO - 10.3390/diagnostics13193041
M3 - 文献综述
C2 - 37835784
AN - SCOPUS:85173802267
SN - 2075-4418
VL - 13
JO - Diagnostics
JF - Diagnostics
IS - 19
M1 - 3041
ER -