Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.

Autor:	Wowra B; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, District Railway Hospital, Panewnicka 65, 40760 Katowice, Poland., Wysocka-Kosmulska M; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, St. Barbara Hospital, Trauma Centre, Medykow Square 1, 41200 Sosnowiec, Poland., Stanienda-Sokół K; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, St. Barbara Hospital, Trauma Centre, Medykow Square 1, 41200 Sosnowiec, Poland., Łach-Wojnarowicz O; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, St. Barbara Hospital, Trauma Centre, Medykow Square 1, 41200 Sosnowiec, Poland., Dobrowolski D; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, District Railway Hospital, Panewnicka 65, 40760 Katowice, Poland.; Department of Ophthalmology, St. Barbara Hospital, Trauma Centre, Medykow Square 1, 41200 Sosnowiec, Poland., Wylęgała E; Chair and Clinical Department of Ophthalmology, School of Medical Science in Zabrze, Medical University of Silesia in Katowice, Panewnicka 65 Str., 40760 Katowice, Poland.; Department of Ophthalmology, District Railway Hospital, Panewnicka 65, 40760 Katowice, Poland.
Jazyk:	angličtina
Zdroj:	Journal of clinical medicine [J Clin Med] 2024 Sep 27; Vol. 13 (19). Date of Electronic Publication: 2024 Sep 27.
DOI:	10.3390/jcm13195761
Abstrakt:	(1) Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, the symptoms of which include both ocular and systemic abnormalities. In the studied subjects, the cornea was significantly opacified with peripheral scarring neovascularization, which is not specific to this syndrome. A suspicion of incorrect diagnosis was raised despite an initial diagnosis of a bilateral Chandler syndrome. (2) In order to provide the proper diagnosis, a DNA sequencing genetic test was conducted with three sisters carrying the presence of a genome imbalance in the FOXC1 gene. The aim of this study is to report a case of a Polish family with a novel gene mutation and its relation with ARS. (3) Our findings implicate the novel deletion of the FOXC1 gene in the pathogenesis of ARS in the affected family. The phenotypic variability observed, including differences in corneal and systemic anomalies, underscores the importance of genetic testing and suggests the influence of non-genetic factors on ARS manifestation.
Databáze:	MEDLINE
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