CNGA3 encodes the A‐subunit of the cone photoreceptor cyclic nucleotide‐gated (CNG)
channel, which is a crucial component of the phototransduction cascade in cone outer …

The CNGA3 gene encodes the A3 subunit of the cone photoreceptor cyclic nucleotide‐gated
(CNG) channel, an essential component of the phototransduction cascade. Certain …

Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone
photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital …

Mutations in the CNGA3 gene have been associated with complete and incomplete forms of
total colour blindness (achromatopsia), a disorder characterized by reduced visual acuity …

Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal
transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3 …

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by
impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six …

Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision
defects, photophobia, nystagmus, and severely reduced visual acuity. The disease is …

purpose. CNGB3 encodes the β-subunits of cyclic nucleotide-gated channels in the
photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in …

purpose. Achromatopsia 2, an inherited retinal disorder resulting in attenuation or loss of
cone function, is caused by mutations in the α subunit of the cone cyclic nucleotide-gated …

Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-
gated (CNG) channel of cone photoreceptors have been associated with autosomal …