Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year.
Journal
Cornea
ISSN: 1536-4798
Titre abrégé: Cornea
Pays: United States
ID NLM: 8216186
Informations de publication
Date de publication:
01 Oct 2024
01 Oct 2024
Historique:
received:
28
04
2023
accepted:
03
05
2024
medline:
17
9
2024
pubmed:
17
9
2024
entrez:
17
9
2024
Statut:
ppublish
Résumé
To determine whether the clinical and paraclinical course of Fuchs endothelial corneal dystrophy (FECD) over 1 year is related to the extent of triplet repetition in the transcription factor 4 (TCF4) gene. A prospective study with a 1-year follow-up was conducted. A total of 104 patients (160 eyes) with FECD and an equivalent number of age- and sex-matched control subjects without FECD were included. At inclusion, the corneas were graded using the modified Krachmer grade (KG) and patients were genotyped for the number of trinucleotide repeats (TNRs) in the TCF4 gene by the short tandem repeat assay. Visual acuity, Scheimpflug tomographic features, and the Visual Function and Corneal Health Status using a visual disability instrument were measured on 2 visits at 1-year intervals. KGs ranged from 1 to 6, and 46% of eyes had grades 1 to 4. 71% of the patients harbored TNR expansion (>40) versus 13% in control subjects ( P < 0.001). Severity at inclusion was higher in the presence of TNR expansion when considering eyes independently (mean grade ±SD, 4.08 ± 1.42) without TNR expansion and 4.66 ± 1.27 with TNR expansion ( P = 0.024). In 1 year, the ETDRS score significantly decreased by -2.97 (95% confidence interval -4.69 to -1.26, P = 0.001) and the ETDRS score with glare by -4.25 (95% confidence interval -6.22 to -2.27, P < 10 -5 ). There was no relationship between the rate of decline and TNR expansion or KG. Central corneal thickness and Visual Function and Corneal Health Status scores did not significantly vary. It is possible to measure a subtle progression of FECD over a period as short as 1 year. We did not find a relationship between the presence of TNR expansion and the speed of deterioration over 1 year. This work should facilitate the design of future clinical trials on FECD.
Identifiants
pubmed: 39288343
doi: 10.1097/ICO.0000000000003590
pii: 00003226-202410000-00004
doi:
Substances chimiques
Transcription Factor 4
0
TCF4 protein, human
0
Banques de données
ClinicalTrials.gov
['NCT03974230']
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1207-1215Subventions
Organisme : Japan-France Integrated Action Program (SAKURA) from Japan Society for the Promotion of Science and by the Hubert-Curien Partnership (PHC), SAKURA 41024 TE, Ministère des Affaires Etrangères et du Développement International, Ministère de lâ€Education Nationale, de lâ€Enseignement Supérieur et de la Recherche, Région Auvergne RhÃ'ne Alpes, Pack ambition Internationale 2019, Sakura Science Exchange Program
Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of interest statement: P. Gain, N. Koizumi, N. Okumura, and G. Thuret were shown using the ICMJE disclosures form. The remaining authors have no funding or conflicts of interest to disclose.
Références
Lorenzetti DW, Uotila MH, Parikh N, et al. Central cornea guttata. Incidence in the general population. Am J Ophthalmol. 1967;64:1155–1158.
Krachmer JH, Purcell JJ, Young CW, et al. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol. 1978;96:2036–2039.
Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113:565–569.
Eghrari AO, McGlumphy EJ, Iliff BW, et al. Prevalence and severity of fuchs corneal dystrophy in Tangier Island. Am J Ophthalmol. 2012;153:1067–1072.
Das AV, Chaurasia S. Clinical profile and demographic distribution of Fuchs' endothelial dystrophy: an electronic medical record-driven big data analytics from an eye care network in India. Indian J Ophthalmol. 2022;70:2415–2420.
Barrera-Sanchez M, Hernandez-Camarena JC, Ruiz-Lozano RE, et al. Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients. Int Ophthalmol. 2022;42:1299–1309.
Baratz KH, Tosakulwong N, Ryu E, et al. E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med. 2010;363:1016–1024.
Fautsch MP, Wieben ED, Baratz KH, et al. TCF4-mediated Fuchs endothelial corneal dystrophy: insights into a common trinucleotide repeat-associated disease. Prog Retin Eye Res. 2021;81:100883.
Viberg A, Westin IM, Golovleva I, et al. TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy. Acta Ophthalmol. 2022;100:541–548.
Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992;68:799–808.
Reiner A, Dragatsis I, Dietrich P. Genetics and neuropathology of Huntington's disease. Int Rev Neurobiol. 2011;98:325–372.
Alper G, Narayanan V. Friedreich's ataxia. Pediatr Neurol. 2003;28:335–341.
Soliman AZ, Xing C, Radwan SH, et al. Correlation of severity of fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4. JAMA Ophthalmol. 2015;133:1386–1391.
Eghrari AO, Vahedi S, Afshari NA, et al. CTG18.1 expansion in TCF4 among African Americans with fuchs' corneal dystrophy. Invest Ophthalmol Vis Sci. 2017;58:6046–6049.
Soh YQ, Peh Swee Lim G, Htoon HM, et al. Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs' Endothelial Corneal Dystrophy. PLoS One. 2019;14:e0210996.
Repp DJ, Hodge DO, Baratz KH, et al. Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio. Ophthalmology. 2013;120:687–694.
Wacker K, Baratz KH, Bourne WM, et al. Patient-reported visual disability in fuchs' endothelial corneal dystrophy measured by the visual function and corneal Health status instrument. Ophthalmology. 2018;125:1854–1861.
Grewing V, Fritz M, Muller C, et al. [The German version of the visual function and corneal Health status (V-FUCHS): a fuchs dystrophy-specific visual disability instrument]. Ophthalmologe. 2020;117:140–146.
Sun SY, Wacker K, Baratz KH, et al. Determining subclinical edema in fuchs endothelial corneal dystrophy: revised classification using Scheimpflug tomography for preoperative assessment. Ophthalmology. 2019;126:195–204.
Xing C, Gong X, Hussain I, et al. Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant. Invest Ophthalmol Vis Sci. 2014;55:7073–7078.
Mootha VV, Gong X, Ku HC, et al. Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2014;55:33–42.
Fritz M, Grewing V, Maier P, et al. Diurnal variation in corneal edema in fuchs endothelial corneal dystrophy. Am J Ophthalmol. 2019;207:351–355.
Oie Y, Watanabe S, Nishida K. Evaluation of visual quality in patients with fuchs endothelial corneal dystrophy. Cornea. 2016;35(suppl 1):S55–S58.
Wieben ED, Aleff RA, Tang X, et al. Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene leads to widespread mRNA splicing changes in fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2017;58:343–352.
Luther M, Grunauer-Kloevekorn C, Weidle E, et al. [TGC repeats in intron 2 of the TCF4 gene have a good predictive power regarding to fuchs endothelial corneal dystrophy]. Klin Monbl Augenheilkd. 2015;233:187–194.
Okumura N, Hayashi R, Nakano M, et al. Association of rs613872 and trinucleotide repeat expansion in the TCF4 gene of German patients with fuchs endothelial corneal dystrophy. Cornea. 2019;38:799–805.
Skorodumova LO, Belodedova AV, Antonova OP, et al. CTG18.1 expansion is the best classifier of late-onset fuchs' corneal dystrophy among 10 biomarkers in a cohort from the European part of Russia. Invest Ophthalmol Vis Sci. 2018;59:4748–4754.
Lanni S, Pearson CE. Molecular genetics of congenital myotonic dystrophy. Neurobiol Dis. 2019;132:104533.
Patel SV, Hodge DO, Treichel EJ, et al. Predicting the prognosis of fuchs endothelial corneal dystrophy by using Scheimpflug tomography. Ophthalmology. 2020;127:315–323.
Shearer TR, Chamberlain WD, Fujii A, et al. Selecting Fuchs patients for drug trials involving endothelial cell proliferation. Eur J Ophthalmol. 2016;26:536–539.