The RGS proteins are GTPase activating proteins that accelerate the deactivation of G
proteins in a variety of signalling pathways in eukaryotes,,,,,. RGS9 deactivates the G …

Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness
worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 …

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

We performed whole genome sequencing in 16 unrelated patients with autosomal recessive
retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration …

Purpose To identify human transient receptor potential cation channel, subfamily M, member
1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB) …

Aqueous humor (AH) is one of the body fluids in the eye, which is known to be related with
various ocular diseases, but the complete RNAs characteristic of the AH in patients is not yet …

Background The genetic profile of retinitis pigmentosa (RP) in East Asian populations has
not been well characterised. Therefore, we conducted a large-scale sequencing study to …

The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a
retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only …

Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased
number of short-wavelength-sensitive cones. Missense mutations in NRL are associated …

Purpose To present phenotypic features of 22 patients with S-antigen (SAG) mutations.
Design Retrospective cohort study. Participants Twenty-one Japanese patients from 16 …