A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundoscopy, and retinography. Clinical diagnosis is confi...

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Detalles Bibliográficos
Autores principales: ARYAN, Hajar, BAHADORI, Atekeh, FARHUD, Dariush D., ZARIF YEGANEH, Marjan, POURKALHOR, Haniyeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475609/
https://www.ncbi.nlm.nih.gov/pubmed/32953689

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7475609/
https://www.ncbi.nlm.nih.gov/pubmed/32953689

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