achromatopsia 2 (ACHM2)

Pathology

cones are defective

Genetics

• autosomal recessive
• defects in the CNGA3 gene

Clinical manifestations

• congenital complete achromatopsia (rod monochromacy)
• day blindness & photophobia
• subjects see better at night

More general terms

• achromatopsia (colorblindness)

Additional terms

• cGMP-gated cation channel alpha 3 (CNG channel alpha 3, cyclic nucleotide gated channel alpha 3, cone photoreceptor cGMP-gated channel alpha subunit, CNGA3, CNCG3)

Database

• OMIM: https://mirror.omim.org/entry/216900