Evidence map›Paper›PMID 40246852›Full record

ArticleNPJ genomic medicine2025

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Ryan E Schmidt, Amy E Pohodich, David Birch, Kaylie Jones, Byron L Lam, Emily H Jung, Nieraj Jain, Michalis Georgiou, Omar A Mahroo, Andrew R Webster and 39 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

49 authors.

Ryan E SchmidtCasey Eye Institute, Oregon Health Science University, Portland, OR, USA.ORCID http://orcid.org/0009-0005-8615-5779
Amy E PohodichCasey Eye Institute, Oregon Health Science University, Portland, OR, USA.
David BirchRetina Foundation of the Southwest, Dallas, TX, USA.
Kaylie JonesRetina Foundation of the Southwest, Dallas, TX, USA.
Byron L LamBascom Palmer Eye Institute, University of Miami, Miami, FL, USA.
Emily H JungDepartment of Ophthalmology, Duke University School of Medicine, Durham, NC, USA.
Nieraj JainDepartment of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA.
Michalis GeorgiouUCL Institute of Ophthalmology, University College London, London, London, UK.
Omar A MahrooUCL Institute of Ophthalmology, University College London, London, London, UK.
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London, London, UK.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, London, London, UK.
Benjamin BakallAssociated Retina Consultants, Phoenix, AZ, USA.
Alessandro IannacconeDuke Eye Center, Duke University School of Medicine, Durham, NC, USA.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada.
Deepika C ParameswarappaDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada.
Elise HeonDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children; University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-4143-9311
Hendrik P N SchollInstitute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.
Lucas Janeschitz-KrieglInstitute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.
Elias I TraboulsiCenter for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.
Wadih ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-3771-6120
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-1916-7551
Catherine CukrasOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Robert HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Tomas S AlemanScheie Eye Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Mohamed M SyllaDepartment of Ophthalmology, Colombia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
Stephen H TsangDepartment of Ophthalmology, Colombia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.
Michelle AlabekDepartment of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Jose SahelDepartment of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Michael B GorinDepartment of Ophthalmology and Human Genetics, University of California, Los Angeles, CA, USA.
Maria M van GenderenDepartment of Ophthalmology University Medical Center Utrecht, Utrecht, The Netherlands.ORCID http://orcid.org/0000-0002-9286-8397
Katarina StinglCenter for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-8132-911X
Milda ReithCenter for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Susanne KohlCenter for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-6438-6331
Rebeca Azevedo Souza AmaralDepartment of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
Juliana Maria Ferraz SallumDepartment of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
Andrea L VincentDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.ORCID http://orcid.org/0000-0002-4185-3267
Sarah HullDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand.
Jacque L DuncanDepartment of Ophthalmology, University of California, San Francisco, CA, USA.
James V M HansonDepartment of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
Matthias TedeusSchulthess Clinic, Zurich, Switzerland.
Jordi MaggiInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Urs GrafInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Samuel KollerInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.ORCID http://orcid.org/0000-0003-0965-0539
Wolfgang BergerInstitute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
Christina Gerth-KahlertDepartment of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
Molly MarraCasey Eye Institute, Oregon Health Science University, Portland, OR, USA.
Lesley A EverettCasey Eye Institute, Oregon Health Science University, Portland, OR, USA.ORCID http://orcid.org/0000-0002-7373-2056
Paul YangCasey Eye Institute, Oregon Health Science University, Portland, OR, USA.
Mark E PennesiCasey Eye Institute, Oregon Health Science University, Portland, OR, USA. pennesim@ohsu.edu.

Funding

Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI John Peter Campbell · 1995 to 2026
$19.4M
Rapid-Prototyping and Design CoreP30EY002162 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ULLIAN, ERIK M · 1985 to 2024
$16.8M
ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale ModelingR01GM129325 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2018 to 2025
$5.2M
NEI NIH HHS P30 EY002162NEI NIH HHS P30 EY010572NIGMS NIH HHS R01 GM129325
6 · The paper itself

Abstract

Ciliopathies are associated with a range of phenotypes including retinal degeneration and skeletal abnormalities. We present a retrospective study of 49 patients with variants in Cilia and Flagella Associated Protein 410 (CFAP410) from multiple ophthalmic centers across the world. Common clinical features included early-onset reduced visual acuity, photophobia, and delayed light-to-dark adaptation. A cone-rod dystrophy pattern was observed roughly two times more commonly than rod-cone dystrophy. A minority of patients (22.4%) presented with skeletal abnormalities consistent with axial spondylometaphyseal dysplasia (SMDAX). Patients with the most severe ophthalmic and skeletal phenotypes had disease-associated variants within conserved leucine-rich regions of CFAP410, and the structural effects of these variants were modelled using ChimeraX. This report furthers our understanding of CFAP410-associated clinical phenotypes such as retinal dystrophy and skeletal dysplasia.

Identifiers

PMID40246852
PMCPMC12006490

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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.