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CTG18.1 expansion in transcription factor 4 (TCF4) in corneal graft failure: preliminary study
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.ORCID iD: 0000-0001-8454-802X
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.ORCID iD: 0000-0002-1292-1945
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.ORCID iD: 0000-0001-8741-0616
Umeå University, Faculty of Medicine, Department of Clinical Sciences, Ophthalmology.
2024 (English)In: Cell and Tissue Banking, ISSN 1389-9333, E-ISSN 1573-6814, Vol. 25, p. 613-618Article in journal (Refereed) Published
Abstract [en]

Fuchs endothelial corneal dystrophy (FECD) is caused by a corneal endothelial cell loss, leading to corneal edema and visual impairment. The most significant genetic risk factor for FECD is an expansion of the CTG18.1 locus in transcription factor 4 (TCF4). The current treatment for severe FECD is corneal transplantation, with Descemet stripping automated keratoplasty (DSAEK) as a common surgical method. Although successful in most cases, the risk for transplant failure due to diverse causes must be considered. In this study, we investigated if presence of TCF4 CTG18.1 expansion with more than 31 (n ≥ 31) repeats in donated corneal grafts could be a reason for corneal transplant failure after DSAEK. For this, nine consecutively failed DSAEK corneal grafts were genotyped for CTG18.1 repeat length. One-sided Mann–Whitney U test was performed to evaluate if failed DSAEK corneal grafts had longer CTG18.1 repeats than healthy controls from the same population. All failed corneal grafts had CTG18.1 n ≤ 27 with a median of 18 (IQR 8.0) repeats for the longest allele. There was no statistical difference in CTG18.1 repeat lengths between failed corneal grafts and the geographically matched healthy control group. In conclusion, none of the nine failed corneal grafts in our material had CTG18.1 repeat lengths ≥ 31, a cut-off known to have a biological relevance in FECD. Thus, our results suggest that the assessment of donors and inspection of the corneal tissue before the decision for procurement is sufficient, in terms of recognizing FECD in the donor.

Place, publisher, year, edition, pages
Springer Science+Business Media B.V., 2024. Vol. 25, p. 613-618
Keywords [en]
CTG18.1, Descemet stripping automated keratoplasty, DSAEK, Fuchs endothelial corneal dystrophy, TCF4, Transcription factor 4
National Category
Ophthalmology
Identifiers
URN: urn:nbn:se:umu:diva-219760DOI: 10.1007/s10561-023-10123-yPubMedID: 38206443Scopus ID: 2-s2.0-85181971334OAI: oai:DiVA.org:umu-219760DiVA, id: diva2:1829229
Funder
Umeå UniversityRegion VästerbottenEye FoundationStiftelsen Kronprinsessan Margaretas arbetsnämnd för synskadadeAvailable from: 2024-01-18 Created: 2024-01-18 Last updated: 2024-08-07Bibliographically approved

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Boström, Ida MariaViberg, AndreasGolovleva, IrinaByström, Berit

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