Publications by authors named "Amanda N Sadan"
Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18.1).
View Article and Find Full Text PDFFuchs 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 a non-coding CTG repeat element (termed CTG18.1) located within the ubiquitously expressed transcription factor encoding gene, TCF4.
View Article and Find Full Text PDFPurpose: 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 the United Kingdom and the Czech Republic. We compared eight parameters of corneal shape (Pentacam, Oculus) with two groups of age-matched controls who had either isolated keratoconus (KC) or isolated FECD.
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, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing.
View Article and Find Full Text PDFArticle Synopsis
- - Fuchs endothelial corneal dystrophy (FECD) is a hereditary eye disorder that commonly leads to vision loss in older adults, primarily linked to polymorphisms in the TCF4 gene and an expanded CTG repeat (CTG18.1) in most patients.
- - Several potential mechanisms have been proposed for how this repeat expansion causes or worsens the disease, including issues with TCF4 regulation and toxic effects from abnormal RNA and protein processes, although the specifics of their contributions are still unclear.
- - The review discusses current research connecting the CTG18.1 expansion to disease manifestations, explores various research tools available for studying FECD, and outlines ongoing efforts to develop new treatments while addressing critical unanswered questions in
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).
View Article and Find Full Text PDFPurpose: To demonstrate the utility of an amplification-free long-read sequencing method to characterize the Fuchs endothelial corneal dystrophy (FECD)-associated intronic TCF4 triplet repeat (CTG18.1).
Methods: We applied an amplification-free method, utilizing the CRISPR/Cas9 system, in combination with PacBio single-molecule real-time (SMRT) long-read sequencing, to study CTG18.