Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGR(ORF15)-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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Detalles Bibliográficos
Autores principales: Tuekprakhon, Aekkachai, Pawestri, Aulia Rahmi, Suvannaboon, Ragkit, Thongyou, Ketwarin, Trinavarat, Adisak, Atchaneeyasakul, La-Ongsri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517444/
https://www.ncbi.nlm.nih.gov/pubmed/34659350
http://dx.doi.org/10.3389/fgene.2021.728085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8517444/
https://www.ncbi.nlm.nih.gov/pubmed/34659350
http://dx.doi.org/10.3389/fgene.2021.728085

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