Evidence map›Paper›PMID 33207664›Full record

ArticleGenes2020

Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.

Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee

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

Article in Genes, 2020. 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
0.1field-weighted citation impact, top 55% 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, 5 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

5 authors at 1 institution in 1 country.

Jee Myung YangDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.ORCID 0000-0001-5729-2233
Beom Hee LeeMedical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.
Gi-Byoung NamDepartment of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.
June-Gone KimDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.
Joo Yong LeeDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, Korea.ORCID 0000-0002-2187-196X
Ulsan College · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPeripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood. METHODS AND

resultsIn this report, we present long-term follow-up data (12 years of follow-up) regarding peripheral retinopathy in an Asian woman and her mother who were both diagnosed with Danon disease. Both patients showed a novel nonsense mutation of the

conclusionsWe report, for the first time, the long-term longitudinal follow-up of Danon disease-related retinopathy in an Asian patient featuring an indolent macular-sparing peripheral lesion.

Indexed as

Codon, NonsenseFemaleFollow-Up StudiesGlycogen Storage Disease Type IIbHumansLysosomal-Associated Membrane Protein 2Middle AgedRetinitis PigmentosaYoung AdultCodon, NonsenseLAMP2 protein, humanLysosomal-Associated Membrane Protein 2AsianDanon diseaseinherited retinal disorderperipheral retinopathypigmentary retinopathy

Identifiers

PMID33207664
PMCPMC7697939
OpenAlexW3104512801

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.