Evidence map›Paper›PMID 40943870›Full record

ArticleJournal of clinical medicine2025

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.

Maximilian D Kong, Mohamed M Sylla, Jin Kyun Oh, Vaidehi S Dedania, Megan Soucy, Aykut Demirkol, Scott E Brodie, Irene H Maumenee, Stephen H Tsang

Abstract readCase Reports
In one paragraph

Article in Journal of clinical medicine, 2025. 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
–field-weighted citation impact
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.

  1. Review
  2. 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

9 authors.

Maximilian D KongEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Mohamed M SyllaEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Jin Kyun OhEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Vaidehi S DedaniaDepartment of Ophthalmology, NYU Grossman School of Medicine, New York, NY 10016, USA.
Megan SoucyEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Aykut DemirkolJonas Children's Vision Care, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Columbia University, New York, NY 10032, USA.ORCID 0000-0001-6738-1643
Scott E BrodieEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Irene H MaumeneeEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.
Stephen H TsangEdward S. Harkness Eye Institute, Department of Ophthalmology, Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY 10032, USA.ORCID 0000-0001-9082-2427

Funding

Therapeutic gene editing and multimodal imaging in juvenile macular degeneration R24EY028758 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI AUDO , ISABELLE, SPARROW, JANET RUTHE · 2020 to 2024
$10.9M
Translational Gene Therapy for CNGB1 Retinitis PigmentosaR24EY027285 · NEI · MICHIGAN STATE UNIVERSITY · PI HAUSWIRTH, WILLIAM W, MICHALAKIS, STYLIANOS · 2018 to 2022
$8.6M
Toward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6M
Gene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7M
Enhancing cone survival in retinitis pigmentosa through cell-specific therapeutic CRISPR editing of a roxadustat targetR01EY033770 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JAMES Bryant HURLEY, Stephen H Tsang · 2022 to 2026
$2.6M
Identification of the specific risk allele responsible for oxidative stress in ARMS2/HTRA1-related AMDU01EY034590 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MCFALINE-FIGUEROA, JOSE LUIS, TSANG, STEPHEN H · 2022 to 2024
$1.2M
Precision genome surgery in autologous stem cell transplantU01EY030580 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SPARROW, JANET RUTHE, TSANG, STEPHEN H · 2019 to 2020
$810k
Foundation Fighting Blindness TA-GT-0321-0802-COLU-TRAPGebroe Family Foundation NALynette and Richard Jaffe Foundation NANEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY033770NEI NIH HHS R24 EY027285NEI NIH HHS R24 EY028758NEI NIH HHS U01 EY030580NEI NIH HHS U01 EY034590NIH HHS 1R01EY018213-18NIH HHS 1R01EY024698-22NIH HHS 1R01EY033770-24NIH HHS 1R24EY027285-21NIH HHS 1R24EY028758-22NIH HHS 1U01EY030580-20NIH HHS 1U01EY034590-22NYEE Foundation NAResearch to Prevent Blindness Physician Scientist AwardRosenbaum Family Foundation NA
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

autofluorescencecongenital hypertrophy of the retinal pigment epithelium (CHRPE)electroretinogram (ERG)inherited retinal disease (IRD)optical coherence tomography (OCT)stromal antigen 2 (STAG2)

Identifiers

PMID40943870
PMCPMC12429593

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.