Brittle Cornea Syndrome: Molecular Diagnosis and Management

Brittle Cornea Syndrome: Molecular Diagnosis and Management

<b>Background and Clinical Significance:</b> Brittle cornea syndrome (BCS) is a rare, autosomal recessive connective tissue disorder characterized by extreme corneal thinning, high myopia, and increased risk of spontaneous or trauma-induced ocular rupture. It is primarily caused by mutat...

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Main Authors: Marco Zeppieri, Mattia Gentile, Antonio Acquaviva, Davide Scollo, Fabiana D’Esposito, Giuseppe Gagliano, Alessandro Avitabile, Caterina Gagliano, Lucia Lapenna
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Diagnostics
Subjects:
keratoglobus
genetic corneal disease
PRDM5 gene
irregular astigmatism
central corneal thinning
pachymetry
Online Access:https://www.mdpi.com/2075-4418/15/13/1596
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