Article
Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
BMC ophthalmology - 12 May 2022
Tawfik Caroline Atef, Elbagoury Nagham Maher, Khater Noha Ibrahim, Essawi Mona Lotfi
Abstract excerpt
BACKGROUND: Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 associated with S-antigen (SAG) gene mutations and type 2 associated with rhodopsin kinase (GRK1) gene mutations. PURPOSE: The aim of this work was to describe the clinical and...
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