FECD-TRACE is an integral component of a large research program dedicated to Fuchs Endothelial Corneal Dystrophy (FECD) in the United Kingdom. This longitudinal, observational study aims to comprehensively characterize a cohort of younger research participants who have a genetic predisposition to developing FECD. By utilizing advanced anterior segment imaging techniques, the study will monitor these individuals over a span of several years, capturing phenotypic changes that reflect the progression of the disease. Concurrently, genetic biomarkers will be examined to establish correlations with the observed phenotypic changes. The primary objective of FECD-TRACE is to enhance our understanding of the intricate genetic mechanisms underlying FECD and establish connections between these genetic findings and clinical outcomes. Ultimately, this research strives to facilitate the development of personalized care approaches for individuals affected by FECD.
Willing and able to provide informed consent for participation in the study
Willing to attend scheduled study visits and undergo a clinical examination
Willing to donate blood/saliva samples
Fulfil the abovementioned cohort criteria
Presence of a secondary cause for corneal endothelial dysfunction or oedema
Presence of clinically evident corneal oedema
History of concurrent corneal diseases
History of corneal surgeries, including corneal transplantation
Participants meeting the recruitment criteria across multiple sites will be enrolled
Cohort
Prospective
Clinical phenotyping
Diagnostic test* Visual acuity assessment * Contrast sensitivity evaluation * Slit-lamp photography * Specular microscopy * Scheimpflug tomography * Anterior segment optical coherence tomography * In vivo confocal microscopy * Spatio-temporal optical coherence tomography
CTG18.1 Expansion Status Genotyping
GeneticGenotyping for trinucleotide repeat in the TCF4 gene (CTG18.1) and other genetic biomarkers using blood or saliva derived genomic DNA. This includes: * Short tandem repeat - PCR * Triplet-repeat primed - PCR * Genome-wide single nucleotide polymorphism genotyping * Ultra-deep locus-specific next-generation sequencing
Endothelial cell density measurement (cells/mm2)
Specular Microscopy - Endothelial cell density.
CTG18.1 allele length (in number)
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Detection of guttata (cells/mm2)
In Vivo Confocal Microscopy (IVCM) - Detection of guttata
Corneal thickness (in micrometers)
Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness
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