Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
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The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with MatthewWood syndr ...
Purpose: Sight restoration is one of the new frontiers for prosthetic devices that enable the electrical stimulation of neurons. In particular, diseases affecting the retinal pigment epithelium and photoreceptors but preserve the inner retinal layers are p ...
Sight restoration is one of the new frontiers for prosthetic devices that enable the electrical stimulation of neurons. In particular, diseases that affect the retinal pigment epithelium and photoreceptors but preserve the inner retinal layers are preferen ...
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 ...
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted ex ...
The molecular diagnosis of retinal dystrophies (RD) is difficult because of genetic and clinical heterogeneity. Previously, the molecular screening of genes was done one by one, sometimes in a scheme based on the frequency of sequence variants and the numb ...
Purpose: Sight restoration is one of the new frontiers for prosthetic devices that enable the electrical stimulation of neurons. In particular, diseases that affect the retinal pigment epithelium and photoreceptors but preserve the inner retinal layers are ...
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 ...
Since 2002, when the first reports on the discovery of a novel type of mammalian ocular photoreceptor were published, a new field of study at the intersection of photobiology and architecture started to emerge. These novel non-rod, non-cone photoreceptors ...
Organic semiconductors have emerged in the past two decades as promising materials for many technological applications. Thanks to their unique optoelectronic properties, they represent an ideal system to mimic natural photoreceptor functioning. This simila ...