Evidence map›Paper›PMID 37835784›Full record

ReviewDiagnostics (Basel, Switzerland)2023

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

Tsai-Hsuan Yang, Eugene Yu-Chuan Kang, Pei-Hsuan Lin, Pei-Liang Wu, Jacob Aaron Sachs, Nan-Kai Wang

Open access · goldAbstract readReview
In one paragraph

Review in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 2 pooled it
1.2field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 2 syntheses or guidelines pooled it, 8 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. The Variety of Mechanosensitive Ion Channels in Retinal Neurons.International journal of molecular sciences · 2024
    Review
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 2 countries.

Tsai-Hsuan YangDepartment of Education, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.ORCID 0009-0003-5932-611X
Eugene Yu-Chuan KangDepartment of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.ORCID 0000-0001-6814-6530
Pei-Hsuan LinNational Taiwan University Hospital, Yunlin 640203, Taiwan.
Pei-Liang WuDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, NY 10032, USA.
Jacob Aaron SachsDepartment of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, NY 10032, USA.
Nan-Kai WangDepartment of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan 33305, Taiwan.ORCID 0000-0002-6277-9879
Chang Gung University · TWFlorida State University · USNational Taiwan University · TWNational Taiwan University Hospital · TWNational Yang Ming Chiao Tung University · TW

Funding

Instrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9M
Reprogramming the metabolome to overcome the genetic heterogeneity in retinitis pigmentosaR01EY031354 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WANG, NAN-KAI · 2020 to 2024
$2.0M
NEI NIH HHS P30 EY019007NEI NIH HHS R01 EY031354
6 · The paper itself

Abstract

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.

Indexed as

cone dystrophy with supernormal rod responsecone–rod dystrophiescongenital stationary night blindnesselectronegative ERGelectroretinographyenhanced S-cone syndromefundus albipunctatusinherited retinal dystrophiesX-linked retinoschisis

Identifiers

PMID37835784
PMCPMC10572658
OpenAlexW4387020217

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.