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Background: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. History and Signs: We analyzed a family fro ...
NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (L ...
Replacement strategies arise as promising approaches in case of inherited retinal dystrophies leading to blindness. A fully organic retinal prosthesis made of conjugated polymers layered onto a silk fibroin substrate is engineered. First, the biophysical a ...
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...
For the radial energy-supercritical nonlinear wave equation □u=−utt+△u=±u7 on R3+1, we prove the existence of a class of global in forward time C∞-smooth solutions with infinite critical Sobolev norm $\dot{H}^{\f ...
This paper describes a climate-based simulation framework devised to investigate the potential for the non-visual effects of daylight in buildings. It is part 2 of a study where the first paper focused on the formulation of the photobiological underpinning ...
This study examined the effect of optic nerve disease, hence retinal ganglion cell loss, on nonvisual functions related to melanopsin signalling. Test subjects were patients with bilateral visual loss and optic atrophy from either hereditary optic neuropat ...
We compared the pupil responses originating from outer versus inner retinal photoreception between patients with isolated hereditary optic neuropathy (HON, n = 8) and healthy controls (n = 8). Three different testing protocols were used. For the first two ...
An edge-detection scheme suitable for machine vision and digital motion detection applications is presented. The scheme is inspired by the human visual system (human retina) and modified for a compact and scalable CMOS hardware implementation. In addition, ...
The first evidence for a novel type of photoreceptor in humans was published in the form of an action spectrum for melatonin suppression. This action spectrum has very different spectral sensitivities compared to rod and cone photoreceptors. This discovery ...
