Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

Abstract excerpt

Five mutations in the S-cone-opsin gene (OPN1SW) that give rise to different single amino-acid substitutions (L56P, G79R, S214P, P264S, R283Q) are known to be associated with tritan color-vision deficiency. Here we report a sixth OPN1SW mutation (T190I) and the associated color vision phenotype. S-opsin genotyping and clinical evaluation of color vision were performed on affected and unaffected family members and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Color Vision
• Share to Color Vision Defects
• Share to Dark Adaptation