Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …

The cone dysfunction syndromes are a heterogeneous group of inherited, predominantly
stationary retinal disorders characterised by reduced central vision and varying degrees of …

The successful restoration of visual function with recombinant adeno-associated virus
(rAAV)-mediated gene replacement therapy in animals and humans with an inherited …

Cyclic nucleotide-gated (CNG) channels are ion channels which are activated by the
binding of cGMP or cAMP. The channels are important cellular switches which transduce …

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 …

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 …

Channels directly gated by cyclic nucleotides (CNG channels) are important cellular
switches that mediate influx of Na+ and Ca 2+ in response to increases in the intracellular …

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 …