Evidence map›Paper›PMID 38111930›Full record

ArticleInternational journal of ophthalmology2023

A pedigree with retinitis pigmentosa and its concomitant ophthalmic diseases.

Hong-Dou Luo, Shao-Nan Pei, Ai-Jia Wang, Xue-Qing Yu, Hai-Jian Hu, Ling Zeng, Fei-Fei Wang, Ming Jin, Xu Zhang

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

Article in International journal of ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 35% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

9 authors at 1 institution in 1 country.

Hong-Dou LuoAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Shao-Nan PeiAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Ai-Jia WangAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Xue-Qing YuAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Hai-Jian HuAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Ling ZengAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Fei-Fei WangAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Ming JinAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Xu ZhangAffiliated Eye Hospital of Nanchang University, Jiangxi Research Institute of Ophthalmology & Visual Science; Jiangxi Provincial Key Laboratory for Ophthalmology, Nanchang 330006, Jiangxi Province, China.
Nanchang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo characterize the ophthalmic clinical phenotype of a family with retinitis pigmentosa (RP) and closed-angle glaucoma and to detect pathogenic genes and mutation sites causing RP in this family.

methodsOphthalmic clinic performance was examined in detail in 8 enrolled family members. Genomic DNA was extracted from the peripheral blood of 4 family members for whole-exome sequencing (WES) to select potential genetic mutations whose structures were identified by bioinformatics analysis. Then, Sanger sequencing was used in 12 family members and control group members to validate and confirm the disease-causing mutation loci, and we analyzed the genotype-phenotype relationships.

resultsThe known c.512C>T (p.P171L) mutation in the

conclusionGlaucoma and related pathological changes, such as retinoschisis, in family members are preliminarily considered RP complications caused by

Indexed as

glaucomaretinitis pigmentosaRHOwhole-exome sequencing

Identifiers

PMID38111930
PMCPMC10700071
OpenAlexW4388958923

What OpenQuestion holds

Textmetadata
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.