Image for Cone dystrophy due to mutations in the CNGB3 gene

Cone dystrophy due to mutations in the CNGB3 gene

Cone dystrophy caused by mutations in the CNGB3 gene is a genetic condition that affects the cone cells in the retina, the part of the eye responsible for sharp, color vision. Mutations in CNGB3 disrupt the function of these cells, leading to progressive loss of color perception, reduced visual acuity, and sensitivity to bright light. Over time, individuals may experience worsening vision and difficulty distinguishing colors, impacting daily activities. This condition is inherited in an autosomal recessive manner, meaning both copies of the gene must be affected. Currently, there is no cure, but supportive management can help maximize remaining vision.