Evidence map›Paper›PMID 40400241›Full record

ArticleOphthalmic genetics2025

Ȧland Island eye disease in two patients harboring novel

Anna Duemler, Hua Gao, Jennifer Powell, Alessandro Iannaccone, Oleg Alekseev

Abstract readCase Reports
In one paragraph

Article in Ophthalmic genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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.

Anna DuemlerDepartment of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.
Hua GaoPublications and Collaborations, GeneDx, LLC, Gaithersburg, Maryland, USA.
Jennifer PowellOptometry, Academy Eye Associates, Durham, North Carolina, USA.
Alessandro IannacconeDepartment of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.
Oleg AlekseevDepartment of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.

Funding

Role of Proteasome Overload in Pathogenesis of Retinitis PigmentosaK08EY033857 · NEI · DUKE UNIVERSITY · PI Oleg Alekseev · 2022 to 2026
$854k
NEI NIH HHS K08 EY033857
6 · The paper itself

Abstract

Ȧland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the

Indexed as

Calcium Channels, L-TypeEye Diseases, HereditaryGenetic Diseases, X-LinkedMutationMyopiaNight BlindnessAdultElectroretinographyFemaleHumansMalePedigreePhenotypeVisual AcuityCACNA1F protein, humanCalcium Channels, L-TypeȦIEDȦland Island eye diseaseCACNA1FCav1.4

Identifiers

PMID40400241
PMCPMC12353906

What OpenQuestion holds

Textmetadata
LicenceTDM
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.