Evidence map›Paper›PMID 42458851›Full record

ArticleAmerican journal of medical genetics. Part A2026

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome.

Aileen G MacLachlan, Jessica A Kraker, Denise J Morgan, Lisa A Schimmenti, M Elizabeth Hartnett, Eileen S Hwang

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 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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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

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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

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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

6 authors.

Aileen G MacLachlanJohn A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0002-0237-7181
Jessica A KrakerDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.
Denise J MorganJohn A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.
Lisa A SchimmentiDepartment of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.ORCID https://orcid.org/0000-0003-3154-4249
M Elizabeth HartnettDepartment of Ophthalmology, Byers Eye Institute at Stanford University, Palo Alto, California, USA.
Eileen S HwangJohn A. Moran Eye Center, Department of Ophthalmology and Visual Sciences, University of Utah, Salt Lake City, Utah, USA.ORCID https://orcid.org/0000-0003-0161-6977

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
University of Utah, Core Vision Research GrantP30EY014800 · NEI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI PAUL STEVEN BERNSTEIN · 2005 to 2026
$14.6M
Endothelial Transmigration in Neovascular Age-related Macular DegenerationR01EY017011 · NEI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HARTNETT, MARY ELIZABETH RUTH · 2007 to 2025
$7.7M
Mechanisms of Angiogenesis of Retinopathy of PrematurityR01EY015130 · NEI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Mary Elizabeth Ruth Hartnett · 2005 to 2026
$7.6M
Inhibiting Neovascularization and Subretinal Fibrosis in Neovascular Age-Related Macular DegenerationR01EY034975 · NEI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Mary Elizabeth Ruth Hartnett, Weiquan (Wendy) Zhu · 2023 to 2026
$2.4M
Cellular, molecular and physical mechanisms of vitreous structural heterogeneity underlying posterior vitreous detachmentK08EY034549 · NEI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Eileen S Hwang · 2023 to 2026
$761k
ALSAM FoundationE. Matilda Ziegler Foundation for the BlindIntermountain Foundation at Primary Children'sJohn A. Moran AwardKnights Templar Eye FoundationNCATS NIH HHS UL1 TR002538NEI NIH HHS K08 EY034549NEI NIH HHS P30 EY014800NEI NIH HHS R01 EY015130NEI NIH HHS R01 EY017011NEI NIH HHS R01 EY034975NIH HHS EY014800NIH HHS R01 034975NIH HHS R01 EY017011NIH HHS R01 EY15130NIH HHS UL1TR002538Research to Prevent Blindness
6 · The paper itself

Abstract

Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype-phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty-two subjects with COL2A1 and 13 subjects with COL11A1 Stickler syndrome were last seen in clinic at a mean age of 17.2 ± 13.1 and 12.6 ± 3.8 years, respectively (p = 0.08). We found that 50% of COL2A1 subjects had lattice degeneration, whereas 8% of the COL11A1 subjects had lattice degeneration (p = 0.015). The most common type of variant for COL2A1 Stickler syndrome was a premature termination codon (12 out of 18 families, 67%); and the most common types of variants for COL11A1 Stickler syndrome were glycine missense variants (4 out of 10 families, 40%) and splice site variants (4 out of 10 families, 40%). There was a higher rate of lattice degeneration in COL2A1 patients compared with COL11A1 patients, a finding that could be influenced by a trend towards older age at last follow-up in the COL2A1 group.

Indexed as

COL11A1COL2A1lattice degenerationStickler syndrome

Identifiers

PMID42458851
PMCPMC13501433

What OpenQuestion holds

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Registered trials

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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.