Abstract Structure and function are highly correlated in the vertebrate retina, a sensory tissue
that is organized into cell layers with microcircuits working in parallel and together to encode …

Although human epidemiological and genetic studies are essential to elucidate the
aetiology of normal and aberrant ocular development, animal models have provided us with …

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

The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …

All vertebrates share a canonical retina with light-sensitive photoreceptors in the outer
retina. These photoreceptors are of two kinds: rods and cones, adapted to low and bright …

The GUCY2D gene encodes for the photoreceptor guanylate cyclase GC-E that synthesizes
the intracellular messenger of photoreceptor excitation cGMP and is regulated by …

The GUCY2D gene encodes retinal membrane guanylyl cyclase (RetGC1), a key
component of the phototransduction machinery in photoreceptors. Mutations in GUCY2D …

Visual defects affect a large proportion of humanity, have a significant negative impact on
quality of life, and cause significant economic burden. The wide variety of visual disorders …

Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor retardation characterized
by neurological impairment and abnormal thyroid hormone (TH) levels. Mutations in the TH …

Etridiazole (EDZ) is a thiadiazole-containing fungicide commonly used to control Pythium
and Phytophthora spp. Although previous studies have shown that EDZ is teratogenic, the …