Evidence map›Paper›PMID 42270684›Full record

ArticleScientific reports2026

genotype-phenotype correlation in lattice corneal dystrophy: added diagnostic value of high-resolution OCT.

Katarzyna Walasz, Ewa Wróblewska-Czajka, Adam Wylęgała, Bartłomiej Bolek, Bogdan Dugiełło, Magdalena Kijonka, Anna Nowińska, Edward Wylęgała

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In one paragraph

Article in Scientific reports, 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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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Katarzyna WalaszChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40-760, Poland. katarzynawalasz6@gmail.com.
Ewa Wróblewska-CzajkaExperimental Ophthalmology Unit, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40- 765, Poland.
Adam WylęgałaExperimental Ophthalmology Unit, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40- 765, Poland.
Bartłomiej BolekExperimental Ophthalmology Unit, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40- 765, Poland.
Bogdan DugiełłoChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40-760, Poland.
Magdalena KijonkaChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40-760, Poland.
Anna NowińskaChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40-760, Poland.
Edward WylęgałaChair and Clinical Department of Ophthalmology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, Railway Hospital Katowice, Panewnicka 65, Katowice, 40-760, Poland.

Funding

Medical University of Silesia in Katowice BNW-1-130/K/3/K
6 · The paper itself

Abstract

introductionLattice corneal dystrophy (LCD) is a progressive genetic disorder involving stromal amyloid accumulation. While molecular genetics is the diagnostic gold standard, its accessibility is often limited. This study evaluates high-resolution anterior segment optical coherence tomography (HR-OCT) for LCD characterization and surgical planning. e analysed 30 patients with confirmed TGFBI mutations (R124C, H626R) using slit-lamp biomicroscopy, in vivo confocal microscopy (IVCM) (Heidelberg Engineering GmbH, Heidelberg, Germany), and 3 μm resolution REVO HR-OCT (Optopol Technology, Zawiercie Poland).

resultsIVCM visualized "felt-like" amyloid filaments at the cellular level. HR-OCT provided precise mapping of deposit depth, epithelial mapping and identified Bowman's layer disruption, explaining clinical recurrent erosions. In post-keratoplasty cases, HR-OCT demonstrated high sensitivity in detecting early recurrence within donor tissue, often before changes became visible during slit-lamp examination.

conclusionsHR-OCT provides enhanced tool for LCD phenotypic characterization, serving as a "pre-operative roadmap" to differentiate candidates for phototherapeutic keratectomy versus keratoplasty. While IVCM offers cellular details, the wide-field imaging of HR-OCT is highly useful and significant for longitudinal monitoring and comprehensive management of LCD.

Indexed as

Corneal Dystrophies, HereditaryGenetic Association StudiesTomography, Optical CoherenceAgedbetaIG-H3 ProteinExtracellular Matrix ProteinsFemaleHumansMaleMicroscopy, ConfocalMiddle AgedMutationPhenotypeTransforming Growth Factor betabetaIG-H3 ProteinExtracellular Matrix ProteinsTransforming Growth Factor beta

Identifiers

PMID42270684
PMCPMC13500647

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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.