Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt
receptor structure and function, which can result in human genetic diseases. Disease …

Purpose To identify the causative mutation of canine progressive retinal atrophy (PRA)
segregating as an adult onset autosomal recessive disorder in the Basenji breed of dog …

Background Oguchi disease is a rare autosomal recessive form of congenital stationary
night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or …

The customary consanguineous nuptials in Pakistan underlie the frequent occurrence of
autosomal recessive inherited disorders, including retinal dystrophy (RD). In many studies …

Oguchi disease is a rare form of congenital stationary night blindness with an autosomal
recessive inheritance pattern. The presence of S‑antigen (SAG) and G‑protein‑dependent …

Purpose To evaluate the nature and extent of changes in the fundamental and harmonic
components of the 31-Hz flicker electroretinogram (ERG) during light adaptation. Methods …

Background Oguchi disease is a rare autosomal recessive form of congenital quiescent
night blindness. Oguchi disease has been found to be associated with gene mutations in …

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness
(CSNB) characterized by specific features such as golden-brown discoloration of the fundus …