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

Unrelated patients with achromatopsia, macular degeneration with onset under age 50
years, cone degeneration or dysfunction, cone‐rod degeneration, or macular malfunction …

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 …

Complete achromatopsia is a rare, autosomal recessive disorder characterized by
photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this …

Complete achromatopsia (ie, rod monochromacy) is a congenital vision disorder in which
cone function is absent or severely diminished, often due to mutations in one of two …

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

We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone
photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia …

Complete achromatopsia or rod monochromatism is a stationary cone dystrophy, with an
incidence of, 1 in 30 000, in which functional cones are absent from the retina. 1 2 Affected …

Achromatopsia is an autosomal recessively inherited visual disorder that is present from
birth and that features the absence of color discrimination. We here report the identification …

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