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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共 49 条
  • [41] Whole-exome sequencing allows the identification of new causal mutations and candidate genes in unsolved inherited retinal dystrophy patients
    Martin-Sanchez, Marta
    Fernandez-Suarez, Elena
    Bravo-Gil, Nereida
    Mendez-Vidal, Cristina
    Gonzalez-del Pozo, Maria
    Mena, Marcela
    Manuel Mejias-Carrasco, Jose
    Garcia-Nunez, Alejandro
    Rodriguez-de la Rua, Enrique
    Morillo Sanchez, Maria Jose
    Borrego, Salud
    Antinolo, Guillermo
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 114 - 114
  • [42] Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
    Hayman, Tamar
    Millo, Talya
    Hendler, Karen
    Chowers, Itay
    Gross, Menachem
    Banin, Eyal
    Sharon, Dror
    [J]. JOURNAL OF MEDICAL GENETICS, 2024, 61 (03) : 224 - 231
  • [43] Gene-edited mouse models and human retinal organoids to study the function of CERKL, NR2E3 and ATXN3 genes in inherited retinal dystrophies
    Marfany, Gemma
    Toulis, Vasileios
    Domenech, Elena B.
    Aisa-Marin, Izarbe
    Mirra, Serena
    da Costa, Maria do Carmo Pereira
    Erceg, Slaven
    Lukovic, Dunja
    Gonzalez-Duarte, Roser
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
  • [44] Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
    Maggi, Jordi
    Koller, Samuel
    Feil, Silke
    Bachmann-Gagescu, Ruxandra
    Gerth-Kahlert, Christina
    Berger, Wolfgang
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (12)
  • [45] Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies
    Iancu, Ionut-Florin
    Perea-Romero, Irene
    Nunez-Moreno, Gonzalo
    de la Fuente, Lorena
    Romero, Raquel
    Avila-Fernandez, Almudena
    Jose Trujillo-Tiebas, Maria
    Riveiro-Alvarez, Rosa
    Almoguera, Berta
    Martin-Merida, Inmaculada
    Del Pozo-Valero, Marta
    Damian-Verde, Alejandra
    Corton, Marta
    Ayuso, Carmen
    Minguez, Pablo
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (15)
  • [46] Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies
    Florin Iancu, Ionut
    De la Fuente Lorente, Lorena
    Nunez Moreno, Gonzalo
    Avila Fernandez, Almudena
    Trujillo Tiebas, Maria Jose
    Riveiro Alvarez, Rosa
    Almoguera Castillo, Berta
    Martin Merida, Inmaculada
    Romero, Raquel
    Del Pozo-Valero, Marta
    Perea-Romero, Irene
    Damian, Alejandra
    Corton, Marta
    Minguez, Pablo
    Ayuso, Carmen
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 291 - 291
  • [47] Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis
    Hu, Yongzheng
    Yu, Yani
    Dong, Hui
    Jiang, Wei
    [J]. PEERJ, 2023, 11
  • [48] Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes
    Tanner, Alexander
    Chan, Hwei Wuen
    Schiff, Elena
    Mahroo, Omar M.
    Pulido, Jose S.
    [J]. BMJ OPEN OPHTHALMOLOGY, 2022, 7 (01):
  • [49] Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
    Ayaz, Akif
    Gezdirici, Alper
    Gulec, Elif Yilmaz
    Ozalp, Ozge
    Koseoglu, Abdullah Huseyin
    Dogru, Zeynep
    Yalcintepe, Sinem
    [J]. MEDENIYET MEDICAL JOURNAL, 2022, 37 (02): : 180 - 193