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) 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 Achromatopsia (ACHM) is a congenital, autosomal recessive retinal disease that
manifests cone dysfunction, reduced visual acuity and color vision, nystagmus, and …

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 …

The purpose of this study was to develop a flexible, cost-efficient, next-generation
sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction …

We assessed a large consanguineous Pakistani family (PKAB157) segregating early onset
low vision problems. Funduscopic and electroretinographic evaluation of affected …

Importance Mutations inCNGA3are the most common cause of achromatopsia and cone-rod
dystrophies. Objective To identifyCNGA3mutations in patients with cone dystrophies or …