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 …

Hereditary cone disorders (CDs) are characterized by defects of the cone photoreceptors or
retinal pigment epithelium underlying the macula, and include achromatopsia (ACHM), cone …

Mutations in the CNGB3 gene account for> 50% of all known cases of achromatopsia.
Although of early onset, its stationary character and the potential for rapid assessment of …

Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity,
impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly …

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

Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased
sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or …

Purpose: The purpose of this study was to clinically characterize patients with CNGA3-linked
achromatopsia (CNGA3-ACHM) in preparation of a gene therapy trial. Methods: Thirty-six …

The visual process begins with the absorption of photons by photopigments of cone and rod
photoreceptors in the retina. In this process, the signal is first amplified by a cyclic guanosine …

Purpose Achromatopsia is a congenital autosomal recessive cone disorder, and it has been
found to be associated with six genes. However, pathogenic variants in these six genes …

Numerous missense mutations in cyclic nucleotide-gated (CNG) channels cause
achromatopsia and retinitis pigmentosa, but the underlying pathogenic mechanisms are …