Mutation Screening and Clinical Findings in a Family with Oguchi Disease in Turkey

Oguchi’s disease is a rare form of CSNB with autosomal recessive inheritance, characterized by a typical clinical feature called the Mizuo-Nakamura phenomenon in which the golden yellow discoloration of the fundus disappears in the dark adapted condition and reappears shortly after exposure to light. We will investigate the presence of TRPM1 (Transient receptor potential cation channel, subfamily m, member 1), GRM6 (glutamate receptor, metabotropic, 6), SAG (S-antigen- arrestin), and GRK1 (G-protein-dependent receptor kinase 1) mutations in the family members with Oguchi disease. one-off testing session lasting approximately 2 hours.