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PurposeTo evaluate the relationship between the peripapillary metabolic alterations [retinal vessel Oximetry (RO)] and the structural findings [retinal vessel diameter and retinal nerve fibre layer thickness (RNFL)] in patients with inherited retinal dystr ...
Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominat ...
We present here the coupling of a polarizable embedding (PE) model to the recently developed multiconfiguration short-range density functional theory method (MC-srDFT), which can treat multiconfigurational systems with a simultaneous account for dynamical ...
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 ...
Sight restoration after retinal degeneration still represents an unmet goal. Since therapeutic strategies increasingly require interdisciplinary competencies, photoreceptor degeneration is attracting several research areas, including: life science, materia ...
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 ...
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 ...
This thesis introduces a new approach to characterize and evaluate ocular light exposure based on the discovery of novel blue light-sensitive photoreceptors in the human eye. These photoreceptors are the primary mediators of 'non-visual' responses impactin ...
Progressive degeneration of photoreceptors is one of the major causes of adult blindness in “industrialized” countries; as an example, Retinitis pigmentosa defines a set of monogenic hereditary retinal diseases, with a prevalence of 1:4000 worldwide, cause ...
The discovery of a novel non-rod, non-cone photoreceptor in the mammalian eye that mediates a range of ‘non-visual’ responses to light has required reexamination of how lighting needs for human health are characterized and evaluated. Existing literature pr ...
