Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.

ABSTRACT:

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 genetic findings of the first two reported families of Oguchi disease in Egypt and African region.

Methods

Four members of two consanguineous Egyptian families with history of night blindness since childhood underwent complete ophthalmological examination, standard automated static perimetry, fundus color photography, fundus autofluorescence (FAF), fundus fluor

SUBMITTER: Tawfik CA 

PROVIDER: S-EPMC9103117 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature