achromatopsia 3 (ACHM3); Pingelapese blindness

Genetics

• defects in the CNGB3 gene

Clinical manifestations

• congenital complete achromatopsia
• severe myopia

Laboratory

• CNGB3 gene mutation

More general terms

• achromatopsia (colorblindness)

Additional terms

• Cyclic-nucleotide-gated cation channel beta 3 (CNG channel beta 3, cone photoreceptor cGMP-gated channel beta subunit, cyclic nucleotide-gated cation channel modulatory subunit, CNGB3)

Database

• OMIM: https://mirror.omim.org/entry/262300