Alice E. Davidson
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View article: Exploring the histopathological signature of repeat‐mediated Fuchs endothelial corneal dystrophy
Exploring the histopathological signature of repeat‐mediated Fuchs endothelial corneal dystrophy Open
Purpose To determine the histological differences between Fuchs endothelial corneal dystrophy (FECD) cases with and without the most common genetic risk factor, expansion of a CTG repeat (CTG18.1) within the TCF4 gene. Methods Formalin‐fix…
View article: Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophy Open
MIR184 variants are a novel rare genetic cause of FECD, and common pathways of transcriptomic dysregulation are shared across genetically distinct subtypes of the disease. These pathways may serve as future gene agnostic targets for therap…
View article: Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization.
Decoding the Cornea-Glaucoma Association: Evidence From Mendelian Randomization. Open
We found no evidence for a causal link between CCT and OAG. Nevertheless, CCT measurements are still valuable for population-based risk stratification. We found no clear relationship between FECD and OAG.
View article: Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review
Current Applications of Artificial Intelligence for Fuchs Endothelial Corneal Dystrophy: A Systematic Review Open
This review offers critical insights for researchers, clinicians, and policymakers, aiding their understanding of existing AI research in FECD management and guiding future health service strategies.
View article: Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments Open
View article: Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity Open
Importance Understanding the pathogenic mechanisms of Fuchs endothelial corneal dystrophy (FECD) could contribute to developing gene-targeted therapies. Objective To investigate associations between demographic data and age at first kerato…
View article: Rare disease gene association discovery in the 100,000 GenomesProject
Rare disease gene association discovery in the 100,000 GenomesProject Open
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet to be discovered disease–gene associations. To search for such associations, we developed a rare var…
View article: Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments Open
Of the around 7,000 known rare diseases worldwide, disease-modifying treatments are available for fewer than 5%, leaving millions of individuals without specialized therapeutic strategies. In recent years, antisense oligonucleotides (ASOs)…
View article: Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping Open
UK Research and Innovation, Moorfields Eye Charity, Fight for Sight, Medical Research Council, NIHR BRC at Moorfields Eye Hospital and UCL Institute of Ophthalmology, Grantová Agentura České Republiky, Univerzita Karlova v Praze, the Natio…
View article: Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant Open
Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree …
View article: Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant Open
Corneal dystrophies are phenotypically and genetically heterogeneous, often resulting in visual impairment caused by corneal opacification. We investigated the genetic cause of an autosomal dominant corneal stromal dystrophy in a pedigree …
View article: Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease Open
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of…
View article: Tissue-Specific Dynamics of<i>TCF4</i>Triplet Repeat Instability Revealed by Optical Genome Mapping
Tissue-Specific Dynamics of<i>TCF4</i>Triplet Repeat Instability Revealed by Optical Genome Mapping Open
Here, we demonstrate the utility of optical genome mapping (OGM) to interrogate the Fuchs endothelial corneal dystrophy (FECD)-associated intronic TCF4 triplet repeat (termed CTG18.1) and gain novel insights into the tissue-specific nature…
View article: Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy Open
The genetic architecture of corneal endothelial dystrophies remains unknown in a substantial number of affected individuals. The proband investigated in the current study was diagnosed in the neonatal period with bilateral corneal opacific…
View article: Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data Open
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited …
View article: Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease Open
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of…
View article: Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy Open
Purpose To characterise the phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy (KC + FECD). Methods We recruited 20 patients with concurrent KC + FECD for a retrospective observational case series from…
View article: Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing Open
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leadin…
View article: Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant
Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant Open
We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by a novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well as a molecular genetic in…
View article: Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture
Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics—Bowman Club Lecture Open
Fuchs endothelial corneal dystrophy (FECD) was first described over a century ago. Since then, we have learnt much about its clinical manifestations, surgical and non-surgical treatment, microscopic appearance and pathogenesis. Over the pa…
View article: Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing Open
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and pre-clinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leadi…
View article: Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy? Open
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, gen…
View article: Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review Open
Background Keratoconus is a disorder characterized by progressive thinning and distortion of the cornea. If detected at an early stage, corneal collagen cross-linking can prevent disease progression and further visual loss. Although advanc…
View article: Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1
Investigation of transcriptional dysregulation events driving Posterior Polymorphous Corneal Dystrophy type 1 Open
View article: Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles Open
ZEB1 loss-of-function (LoF) alleles are known to cause a rare autosomal dominant disorder—posterior polymorphous corneal dystrophy type 3 (PPCD3). To date, 50 pathogenic LoF variants have been identified as disease-causing and familial stu…
View article: A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus Open
View article: Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review (Preprint)
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review (Preprint) Open
BACKGROUND Keratoconus is a disorder characterized by progressive thinning and distortion of the cornea. If detected at an early stage, corneal collagen cross-linking can prevent disease progression and further visual loss. Although advan…
View article: TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease Open
Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in the elderly. Since the first description of an association between FECD and common polymorphisms situated within the transcription factor 4 (TCF4) ge…
View article: A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations Open
View article: CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat Open