AAV-CNGA3

Achromatopsia (ACHM) is an IRD that specifically prevents cone photoreceptors from functioning properly. As a result, those with ACHM are legally blind from birth and usually suffer from severely reduced visual acuity, a disabling sensitivity to light (also known as photophobia), total color blindness, and involuntary back and forth eye movements (also known as nystagmus).

ACHM occurs in approximately one in 30,000 people in the U.S. and is estimated to impact approximately 24,000 patients in the U.S., EU5, and Japan. To date, mutations in six different genes have been identified as causing ACHM, however the CNGB3 and CNGA3 genes are the two most common of these genes, together accounting for up to 90% of ACHM cases.¹

¹ Koma´romy, A., Alexander, J., Rowlan, J., Garcia, M., Chiodo, V., Tanaka, J., Acland, G., Hauswirth, W., & Aguirre, G. (2010). Gene therapy rescues cone function in congenital achromatopsia. Human Molecular Genetics, 19(13), 2581–2593. doi: 10.1093/hmg/ddq136

AAV-CNGA3

1 Koma´romy, A., Alexander, J., Rowlan, J., Garcia, M., Chiodo, V., Tanaka, J., Acland, G., Hauswirth, W., & Aguirre, G. (2010). Gene therapy rescues cone function in congenital achromatopsia. Human Molecular Genetics, 19(13), 2581–2593. doi: 10.1093/hmg/ddq136

¹ Koma´romy, A., Alexander, J., Rowlan, J., Garcia, M., Chiodo, V., Tanaka, J., Acland, G., Hauswirth, W., & Aguirre, G. (2010). Gene therapy rescues cone function in congenital achromatopsia. Human Molecular Genetics, 19(13), 2581–2593. doi: 10.1093/hmg/ddq136