Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …

Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically
heterogeneous retinal disorder. It is characterized by a lack of color discrimination, poor …

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

Achromatopsia is an autosomal recessive retinal disease involving loss of cone function that
afflicts approximately 1 in 30,000 individuals. Patients with achromatopsia usually have …

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 …

Achromatopsia (ACHM) is a rare autosomal recessive inherited retinal disorder with an
incidence of approximately 1 in 30,000. It presents at birth or early infancy and is typically …

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

Achromatopsia is an autosomal recessive disorder featuring total colour blindness,
photophobia, reduced visual acuity and nystagmus. While mutations in the CNGA3 gene on …

Abstract Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM)
or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder …

Achromatopsia is a rare autosomal recessive disorder which shows color blindness,
severely impaired visual acuity, and extreme sensitivity to bright light. Mutations in the alpha …