Evidence map›Paper›PMID 39763288›Full record

ArticleOphthalmic genetics2025

Phosphoribosyl pyrophosphate synthetase 1 (

Ogul E Uner, Radwa Elsharawi, Margaret Reynolds, Giacomo M Bacci, Sara Bargiacchi, David G Birch, Fred K Chen, Nieraj Jain, Rachael C Heath Jeffery, Tina M Lamey and 8 more

Abstract readMulticenter Study
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 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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

18 authors.

Ogul E UnerDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.ORCID 0000-0002-8730-6859
Radwa ElsharawiDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.ORCID 0000-0002-8580-8580
Margaret ReynoldsDepartment of Ophthalmology, St. Louis Children's Hospital, Washington University in St. Louis, St. Louis, Missouri, USA.ORCID 0000-0002-2588-5517
Giacomo M BacciPediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy.ORCID 0000-0002-8741-4833
Sara BargiacchiMedical Genetics Unit, Meyer Children's Hospital IRCCS, Firenze, Toscana, Italy.ORCID 0000-0003-4271-0863
David G BirchOphthalmology, Retina Foundation of the Southwest, Dallas, Texas, USA.ORCID 0000-0002-6594-2897
Fred K ChenCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Australia.ORCID 0000-0003-2809-9930
Nieraj JainDepartment of Ophthalmology, Emory School of Medicine, Atlanta, Georgia, USA.ORCID 0000-0003-2218-6611
Rachael C Heath JefferyCentre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Australia.ORCID 0000-0002-9078-7059
Tina M LameyAustralian Inherited Retinal Diseases Registry, Medical Technology and Physics Department, Sir Charles Gairdner Hospital, Nedlands, Australia.ORCID 0000-0002-4608-4073
Debarshi MustafiDepartment of Ophthalmology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.ORCID 0000-0002-9164-7488
Mariana Matioli da PalmaInstituto de Genetica Ocular, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.ORCID 0000-0001-5770-279X
Juliana Maria Ferraz SallumInstituto de Genetica Ocular, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.ORCID 0000-0002-7206-4447
Mariam Torres SotoDepartment of Ophthalmology, Emory School of Medicine, Atlanta, Georgia, USA.ORCID 0000-0003-3606-2935
Kaylie JonesOphthalmology, Retina Foundation of the Southwest, Dallas, Texas, USA.ORCID 0000-0003-2818-5097
Paul YangDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.ORCID 0000-0003-2294-0979
Mark E PennesiDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.ORCID 0000-0002-4943-6599
Lesley A EverettDepartment of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.ORCID 0000-0002-7373-2056

Funding

Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI CATHERINE W MORGANS · 1995 to 2026
$19.4M
The role of non-coding variants in Usher diseaseK08EY033789 · NEI · UNIVERSITY OF WASHINGTON · PI Debarshi Mustafi · 2023 to 2026
$921k
NEI NIH HHS K08 EY033789NEI NIH HHS P30 EY010572
6 · The paper itself

Abstract

introductionPhosphoribosyl pyrophosphate synthetase 1 (

methodsA multicenter retrospective clinical case series of 15 patients from 12 pedigrees with

resultsOf 15 patients, 11 (73.3%) were female. Mean age of ocular disease onset was 8.5 years (range, 0.5-35 years). Many were diagnosed with Leber congenital amaurosis prior to genetic testing ( DISCUSSION:

Indexed as

MutationRetinal DegenerationRibose-Phosphate PyrophosphokinaseAdolescentAdultChildChild, PreschoolFemaleHumansInfantMalePedigreePhenotypeRetrospective StudiesVisual AcuityYoung AdultPRPS1 protein, humanRibose-Phosphate PyrophosphokinaseArts syndromeCharcot-Marie-Toothcone-rod dystrophyhearing losshyperopiaPRPS1

Identifiers

PMID39763288
PMCPMC12064003

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.