Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRORF15-Associated Retinal Disorder

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGRORF15-Associated Retinal Disorder

X-linked retinitis pigmentosa (XLRP), a rare form of retinitis pigmentosa (RP), is predominantly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Affected males often present with severe phenotypes and early disease onset. In contrast, female carriers are usually asympto...

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Bibliographic Details
Main Authors: Aekkachai Tuekprakhon, Aulia Rahmi Pawestri, Ragkit Suvannaboon, Ketwarin Thongyou, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Genetics
Subjects:
x-linked retinitis pigmentosa
visual snow
retinitis pigmentosa GTPase regulator gene
random X-chromosome inactivation
case report
inherited retinal disease
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.728085/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.728085/full

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