Double Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa
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This thesis focuses on the study of H6 homeobox 1 (HMX1) gene, a homeobox-containing transcription factor involved in sensory organ and eye development and responsible for the oculo-auricular syndrome of Schorderet-Munier-Franceschetti. The purpose of my s ...
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 ...
The retina is one of the best known quantum detectors with rods able to reliably respond to single photons. However, estimates on the number of photons eliciting conscious perception, based on signal detection theory, are systematically above these values ...
Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and participa ...
Perception of a visual target can strongly deteriorate in the presence of flanking elements (crowding). For example, adding lines next to a vernier makes vernier offset discrimination difficult. Crowding is often considered a bottleneck of low-level vision ...
PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...
In crowding, target perception deteriorates when flanking elements are added. Crowding is traditionally characterized by target-flanker interactions which are (1) deleterious, (2) spatially confined within Bouma’s window, and (3) feature specific. Here, we ...
Perception of an element can be strongly modulated by surround. Likewise, neural firing of a neuron can strongly be influenced by stimuli outside the classical receptive field. Contextual modulation is often seen as a limitation of the visual system, where ...
Daylight is a dynamic source of illumination in architectural space, creating diverse and ephemeral configurations of light and shadow within the built environment. It can generate contrasting levels of brightness between distinct geometries or it can high ...
The objective of much robotics research in recent years has been to develop lightweight autonomous flying robots. Applications for these aircrafts are numerous, including natural disaster monitoring, mapping, and search-and-rescue missions. One of the majo ...
