Evidence map›Paper›PMID 40079222›Full record

ReviewClinical & experimental ophthalmology2025

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Petra Liskova, Pavlina Skalicka, Lubica Dudakova, Andrea L Vincent

Abstract readReview
In one paragraph

Review in Clinical & experimental ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Objective assessment of graft clarity and recurrence after penetrating keratoplasty for granular, lattice and macular corneal dystrophy using scheimpflug densitometry.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026
    Article
  3. Article
  4. Review
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

4 authors.

Petra LiskovaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Pavlina SkalickaDepartment of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Lubica DudakovaDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Andrea L VincentDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, The University of Auckland, Auckland, New Zealand.ORCID 0000-0002-4185-3267

Funding

Ministerstvo Zdravotnictví Ceské Republiky MH CZDRO-VFN64165Ministerstvo Zdravotnictví Ceské Republiky NW24-06-00083Ministerstvo Zdravotnictví Ceské Republiky NW25-07-00303UNIVERZITA KARLOVA SVV 2600631UNIVERZITA KARLOVA UNCE/24/MED/022
6 · The paper itself

Abstract

Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit-lamp appearance, affected corneal layer and histological features. Molecular genetics has provided ultimate proof for the existence of distinct corneal dystrophies and discarded duplicates in their terminology. Currently, there are at least 16 genes with identified pathogenic variants implicated in corneal dystrophies. Herein, we summarise contemporary knowledge on genotype-phenotype correlations of corneal dystrophies, including a critical review of some reported variants, along with the understanding of the underlying pathogenic dystrophic process; essential knowledge for the development of targeted therapies.

Indexed as

Corneal Dystrophies, HereditaryGenetic Association StudiesMutationGenotypeHumansMolecular BiologyPhenotypecorneal dystrophygeneticshereditarymolecular biology

Identifiers

PMID40079222
PMCPMC11962681

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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.