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Article

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

Genes - 18 Nov 2021

Kousal Bohdan, Hlavata Lucia, Vlaskova Hana, Dvorakova Lenka, Brichova Michaela, Dubska Zora, Langrova Hana, Vincent Andrea L, Dudakova Lubica, Liskova Petra

Abstract excerpt

The aim of this study was to identify RS1 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 RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12...

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Identifiers

PMID: 34828422
DOI: 10.3390/genes12111816
PMCID: PMC8623540

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