Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.

Autor:	Csidey M; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Department of Opthalmology, Heim Pál National Pediatric Institute, Budapest, Hungary., Csorba A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Kormányos K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Náray A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Kéki-Kovács K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Németh O; Department of Ophthalmology, Markusovszky University Teaching Hospital, Szombathely, Hungary., Knézy K; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Bausz M; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szigeti A; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Szabó D; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Corton M; Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Tory K; MTA-SE Lendület Nephrogenetic Laboratory, Hungarian Academy of Sciences, Budapest, Hungary.; 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary., Jávorszky E; 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary., Nagy ZZ; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Maka E; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Langenbucher A; Experimental Ophthalmology, Saarland University, Homburg, Saar, Germany., Sperlich K; Department of Ophthalmology, Rostock University Medical Center, Rostock, Germany.; Department Life, Light & Matter, University Rostock, Rostock, Germany; and., Stachs O; Department of Ophthalmology, Rostock University Medical Center, Rostock, Germany.; Department Life, Light & Matter, University Rostock, Rostock, Germany; and., Winter K; Institute for Anatomy, Leipzig University, Leipzig, Germany., Szentmáry N; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Jazyk:	angličtina
Zdroj:	Cornea [Cornea] 2024 Dec 12. Date of Electronic Publication: 2024 Dec 12.
DOI:	10.1097/ICO.0000000000003779
Abstrakt:	Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy. Methods: Twenty-seven eyes of 16 subjects with congenital aniridia (age 28.25 ± 16.32 [11-59] years, 8 [50%] female) and 40 eyes of 26 healthy subjects (age 33.8 ± 15.2 [14-67] years, 17 [58.6%] females) were examined. Aniridia-associated keratopathy and iris malformation were graded, and means of endothelial cell density, cell area, cell diameter, spatial pattern of cell centroids (Clark-Evans index), polygonality, neighbor count, percentage of hexagonal cells, and endothelial deposit number were determined by in vivo confocal laser scanning microscopy. Results: Mean cell diameter and mean Clark-Evans index were significantly lower (P = 0.049; P = 0.008) in congenital aniridia eyes than in controls. There were hyperreflective endothelial deposits in congenital aniridia eyes but not in controls (P < 0.001). Only aniridia-associated keratopathy grade correlated positively with mean endothelial deposit number (P = 0.017). Conclusions: In congenital aniridia, the corneal endothelium might possess a slightly better quality and greater reserves than in healthy subjects. Corneal endothelial deposition seems to be independent from developmental abnormalities but may be related to up to date undescribed endothelial inflammatory or metabolic changes. Competing Interests: The authors have no funding or conflicts of interest to disclose. (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc.)
Databáze:	MEDLINE
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