Evidence map›Paper›PMID 35148716›Full record

ArticleBMC ophthalmology2022

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.

Tianwei Qian, Qiaoyun Gong, Hangqi Shen, Caihua Li, Gao Wang, Xun Xu, Isabelle Schrauwen, Weijun Wang

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 45% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
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

8 authors at 5 institutions in 2 countries.

Tianwei Qian *Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.
Qiaoyun Gong *Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.
Hangqi ShenDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.
Caihua LiGenesky Biotechnologies Inc, Shanghai, China.
Gao WangDepartment of Neurology, Columbia University Medical Center, 630W 168th St, New York, 10032, USA.
Xun XuDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China.
Isabelle SchrauwenDepartment of Neurology, Columbia University Medical Center, 630W 168th St, New York, 10032, USA. is2632@cumc.columbia.edu.
Weijun WangDepartment of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University, No. 100 Haining Rd, Shanghai, 200080, China. weij719@126.com.
Columbia University Irving Medical Center · USShanghai Eye Disease Prevention & Treatment Center · CNShanghai First People's Hospital · CNShanghai Jiao Tong University · CNState Key Laboratory of Oncogene and Related Genes · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.

methodsComplete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.

resultsSix members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.

conclusionWe identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.

Indexed as

Alcohol OxidoreductasesNight BlindnessRetinal DystrophiesChinaElectroretinographyHumansMutationPedigreePolymerase Chain ReactionRetinal DehydrogenaseRetinal DiseasesTomography, Optical CoherenceAlcohol OxidoreductasesRetinal Dehydrogenaseretinol dehydrogenase 5Frameshift deletionFundus albipunctatusMissense variantsRDH5 gene

Identifiers

PMID35148716
PMCPMC8840791
OpenAlexW4211191361

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.