A compound heterozygous mutation in the S-Antigen Visual Arrestin SAG gene in a Chinese patient with Oguchi type one: a case report

BACKGROUND: Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1, which are vital factors in the recovery phase of phototransduction after light stimuli. We report a case of Oguch...

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Detalles Bibliográficos
Autores principales: Deng, Zhen, Fan, Fangli, Tang, Danyan, Wu, Yifeng, Shu, Yujie, Wu, Kunlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895538/
https://www.ncbi.nlm.nih.gov/pubmed/35246075
http://dx.doi.org/10.1186/s12886-022-02307-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895538/
https://www.ncbi.nlm.nih.gov/pubmed/35246075
http://dx.doi.org/10.1186/s12886-022-02307-z

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