Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

The aim of this study was to identify <i>RS1</i> pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of &l...

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Autores principales:	Bohdan Kousal, Lucia Hlavata, Hana Vlaskova, Lenka Dvorakova, Michaela Brichova, Zora Dubska, Hana Langrova, Andrea L. Vincent, Lubica Dudakova, Petra Liskova
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>RS1</i> X-linked retinoschisis novel variant uveitis steroid treatment Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e99
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spelling	oai:doaj.org-article:e7eab7217f274eb8b2e3a557131c7e992021-11-25T17:42:20ZClinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population10.3390/genes121118162073-4425https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e992021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1816https://doaj.org/toc/2073-4425The aim of this study was to identify <i>RS1</i> pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of <i>RS1</i> was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within <i>RS1</i> were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.Bohdan KousalLucia HlavataHana VlaskovaLenka DvorakovaMichaela BrichovaZora DubskaHana LangrovaAndrea L. VincentLubica DudakovaPetra LiskovaMDPI AGarticle<i>RS1</i>X-linked retinoschisisnovel variantuveitissteroid treatmentGeneticsQH426-470ENGenes, Vol 12, Iss 1816, p 1816 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>RS1</i> X-linked retinoschisis novel variant uveitis steroid treatment Genetics QH426-470
spellingShingle	<i>RS1</i> X-linked retinoschisis novel variant uveitis steroid treatment Genetics QH426-470 Bohdan Kousal Lucia Hlavata Hana Vlaskova Lenka Dvorakova Michaela Brichova Zora Dubska Hana Langrova Andrea L. Vincent Lubica Dudakova Petra Liskova Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
description	The aim of this study was to identify <i>RS1</i> pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of <i>RS1</i> was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within <i>RS1</i> were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.
format	article
author	Bohdan Kousal Lucia Hlavata Hana Vlaskova Lenka Dvorakova Michaela Brichova Zora Dubska Hana Langrova Andrea L. Vincent Lubica Dudakova Petra Liskova
author_facet	Bohdan Kousal Lucia Hlavata Hana Vlaskova Lenka Dvorakova Michaela Brichova Zora Dubska Hana Langrova Andrea L. Vincent Lubica Dudakova Petra Liskova
author_sort	Bohdan Kousal
title	Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
title_short	Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
title_full	Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
title_fullStr	Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
title_full_unstemmed	Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
title_sort	clinical and genetic study of x-linked juvenile retinoschisis in the czech population
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/e7eab7217f274eb8b2e3a557131c7e99
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Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

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