Evidence map›Paper›PMID 41595486›Full record

ReviewGenes2026

The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.

Francesco Cappellani, Matteo Capobianco, Federico Visalli, Cosimo Mazzotta, Fabiana D'Esposito, Daniele Tognetto, Caterina Gagliano, Marco Zeppieri

Abstract readReview
In one paragraph

Review in Genes, 2026. 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

8 authors.

Francesco CappellaniDepartment of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.ORCID 0009-0007-6807-9455
Matteo CapobiancoDepartment of Ophthalmology, University of Catania, 95123 Catania, Italy.ORCID 0009-0009-2969-8610
Federico VisalliDepartment of Ophthalmology, University of Catania, 95123 Catania, Italy.ORCID 0009-0005-6710-2460
Cosimo MazzottaDepartment of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.
Fabiana D'EspositoDepartment of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.ORCID 0000-0002-7938-876X
Daniele TognettoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.
Caterina GaglianoDepartment of Medicine and Surgery, University of Enna "Kore", Piazza dell'Università, 94100 Enna, Italy.ORCID 0000-0001-8424-0068
Marco ZeppieriDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0003-0999-5545

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKeratoconus (KC) is a progressive corneal ectasia and a leading cause of corneal transplantation in young adults. Once regarded as a biomechanical disorder, KC is now recognized as a complex disease driven by genetic predisposition, epigenetic modulation, and environmental triggers. Advances in genomics and transcriptomics have begun to elucidate the molecular mechanisms underlying corneal thinning and ectasia.

objectivesThis review synthesizes two decades of evidence on the genetic and epigenetic architecture of keratoconus, highlights key molecular pathways implicated by these findings, and discusses translational implications for early diagnosis, risk prediction, and novel therapeutic strategies.

methodsA narrative review was conducted of peer-reviewed human, animal, and in vitro studies published from 2000 to 2025, with emphasis on genome-wide association studies (GWAS), sequencing data, methylation profiling, and non-coding RNA analyses. Findings were integrated with functional studies linking genetic variation to molecular and biomechanical phenotypes.

resultsGenetic studies consistently implicate loci such as

Indexed as

Epigenesis, GeneticKeratoconusAnimalsDNA MethylationGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansDNA methylationepigeneticsextracellular matrixgeneticsgenome-wide association studieskeratoconusmicroRNAspersonalized medicine

Identifiers

PMID41595486
PMCPMC12841094

What OpenQuestion holds

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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.