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 · 2026

Read genotype–phenotype correlation in lattice corneal dystrophy: added diagnostic value of high-resolution OCT by Katarzyna Walasz, Ewa Wróblewska-Czajka, Adam Wylęgała, Bartłomiej Bolek, Bogdan Dugiełło, Magdalena Kijonka, Anna Nowińska, Edward Wylęgała (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13500647.txt.

Description

Katarzyna Walasz leads a 2026 imaging study of lattice corneal dystrophy, an inherited eye disease where amyloid protein builds up in the cornea's middle layer and clouds vision. Genetic testing settles the diagnosis but is often unavailable or unaffordable, so the team asked what high-resolution optical coherence tomography, a light-based scan, adds alongside microscope examination and confocal microscopy. Thirty patients carrying two known mutations in the responsible gene were imaged with all three methods.

Confocal microscopy showed felt-like amyloid filaments at cellular scale in the reported examinations. The high-resolution scan mapped deposit depth precisely, charted the surface layer, and revealed breaks in a deeper membrane that explain the painful surface erosions these patients suffer. After transplant surgery it flagged early recurrence inside donor tissue before slit-lamp examination could see it, acting as a pre-operative roadmap for choosing laser reshaping or full transplantation.

Catalog record

CREATORKatarzyna Walasz, Ewa Wróblewska-Czajka, Adam Wylęgała, Bartłomiej Bolek, Bogdan Dugiełło, Magdalena Kijonka, Anna Nowińska, Edward Wylęgała
YEAR2026
COLLECTIONPAPERS
FORMATTXT
FILE SIZE27214
LICENSEhttps://creativecommons.org/licenses/by/4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/article/MED/PMC13500647

Browse the full library · About the Tower of Babel