Evidence map›Paper›PMID 30619975›Full record

ArticleAmerican journal of ophthalmology case reports2019

Clinical findings of end-stage retinitis pigmentosa with a homozygous

Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano

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

Article in American journal of ophthalmology case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 42% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2021
    Article
  3. Review
  4. 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

10 authors at 3 institutions in 1 country.

Kei MizobuchiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Satoshi KatagiriDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Kazutoshi YoshitakeNational Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Kaoru FujinamiLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan.
Kazuki KuniyoshiDepartment of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan.
Reimi MishimaDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Kazushige TsunodaLaboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Centre, Tokyo, Japan.
Takeshi IwataNational Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Tadashi NakanoDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Jikei University School of Medicine · JPTokyo Medical Center · JPKindai University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous

methodsWe performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was used to investigate the RP patient with parental consanguinity. The pedigree included 4 RP patients in the two generations, which suggests presumed pseudo-autosomal dominant inheritance.

resultsA CONCLUSIONS AND IMPORTANCE: This is the first report that the

Indexed as

Chorioretinal atrophyJapaneseNext generation sequencingPDE6ARetinitis pigmentosa

Identifiers

PMID30619975
PMCPMC6307093
OpenAlexW2904517865

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.