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

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 conf...

Full description

Bibliographic Details
Main Authors: Hajar ARYAN, Atekeh BAHADORI, Dariush D. FARHUD, Marjan ZARIF YEGANEH, Haniyeh POURKALHOR
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-05-01
Series:Iranian Journal of Public Health
Subjects:
Congenital night blindness;
Oguchi disease;
GRK1 protein;
SAG protein
Online Access:https://ijph.tums.ac.ir/index.php/ijph/article/view/14458

Internet

https://ijph.tums.ac.ir/index.php/ijph/article/view/14458

Similar Items