Evidence map›Paper›PMID 41720099›Full record

ArticleAmerican journal of human genetics2026

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.

Siying Lin, Francesca Cancellieri, Yexuan Cao, Andrew J Lotery, Abigail R Moye, Veronika Vaclavik, Fabienne Perren, Andrzej B Poplawski, Elena R Schiff, Mukhtar Ullah and 22 more

Abstract read
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Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

32 authors.

Siying LinDivision of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital & Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK.
Francesca CancellieriInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Yexuan CaoDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Andrew J LoterySouthampton Eye Unit, University Hospital Southampton, Southampton, UK; Faculty of Medicine, University of Southampton, Southampton, UK.
Abigail R MoyeInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Veronika VaclavikJules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Fabienne PerrenDepartment of Sciences and Medicine, LUNIC Laboratory, University of Fribourg, Fribourg, Switzerland; Department of Clinical Neurosciences, Neurocenter of Geneva, LUNIC Laboratory, Geneva, Switzerland.
Andrzej B PoplawskiDivision of Research, Greenwood Genetic Center, Greenwood, SC, USA.
Elena R SchiffNational Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK.
Mukhtar UllahInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Ana Belen Iglesias-RomeroInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Karolina KaminskaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Aleksandr JestinUCL Institute of Ophthalmology, University College London, London, UK.
Marc FolcherInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Sandrine WallerichInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland.
Mariana M RibeiroInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Vincent HahautInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Simone PicelliInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Debarshi MustafiDepartment of Ophthalmology, University of Washington, Seattle, WA, USA; Division of Ophthalmology, Seattle Children's Hospital, Seattle, WA, USA.
Aleksander TworakDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Roman SmidakDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Yumei LiDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Jiaxiong LuDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Meng WangDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Omar A MahrooNational Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK; Department of Ophthalmology, St Thomas' Hospital, London, UK.
Shyamanga BorooahDepartment of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, CA, USA.
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Krzysztof PalczewskiDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA; Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, Irvine, CA, USA; Department of Chemistry, University of California, Irvine, Irvine, CA, USA; Department of Molecular Biology and Biochemistry, University of California, Irvine, Irvine, CA, USA.
Andrew R WebsterNational Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Rui ChenDepartment of Ophthalmology and Visual Sciences, Gavin Herbert Eye Institute - Robert M. Branson Center for Translational Vision Research, University of California, Irvine, Irvine, CA, USA.
Gavin ArnoNational Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK; UCL Institute of Ophthalmology, University College London, London, UK; Division of Research, Greenwood Genetic Center, Greenwood, SC, USA. Electronic address: g.arno@ucl.ac.uk.

Funding

STRUCTURAL STUDIES OF ARRESTINSR01EY009339 · NEI · UNIVERSITY OF WASHINGTON · PI KISER, PHILIP DAVID, PALCZEWSKI, KRZYSZTOF · 1992 to 2025
$16.0M
Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ALEXANDROV, ANDREI · 2021 to 2025
$10.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI NIH HHS R01 EY009339NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NIGMS NIH HHS P20 GM139769
6 · The paper itself

Abstract

Retinitis pigmentosa (RP) is an inherited retinal disease (IRD) characterized usually by progressive photoreceptor degeneration, leading to night blindness, peripheral visual field loss, and can progress to central vision impairment in some individuals. Despite advances in genomic diagnostics, many individuals with RP remain without a molecular diagnosis. We identified bi-allelic ultra-rare variants in fibronectin type II and Spry domain-containing protein 1-like (FSD1L) in six individuals with RP with or without neurological features from four unrelated families. FSD1L encodes a cytoplasmic protein, variants of which have not previously been associated with Mendelian disease. The gene is expressed in both human and mouse retinas that are enriched in cone and rod photoreceptors. Immunofluorescence and ultrastructure expansion microscopy show that FSD1L localizes along the photoreceptor microtubule axoneme, including the connecting cilium and outer segment, supporting a possible role in intracellular trafficking. A retina-enriched isoform of FSD1L includes an alternatively spliced exon (exon 10b), which we characterize as absent in minigene assays and affected individual-derived lymphocytes due to a deep intronic 26 nt deletion. Together, these findings support the association between bi-allelic disruption of FSD1L and IRD.

Indexed as

Retinitis PigmentosaAdultAllelesAlternative SplicingAnimalsExonsFemaleHumansMaleMiceMiddle AgedPedigreeProtein IsoformsRetinaRetinal Rod Photoreceptor CellsProtein IsoformsciliaFSD1Lgenome sequencinginherited retinal dystrophynanopore sequencingretina-enriched isoformretinal transcriptomicsretinitis pigmentosasingle-cell transcriptomesplice variant

Identifiers

PMID41720099
PMCPMC13087403

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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.