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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 ...
Because standard cameras sample the scene at constant time intervals, they do not provide any information in the blind time between subsequent frames. However, for many high-speed robotic and vision applications, it is crucial to provide high-frequency mea ...
Background Retinitis pigmentosa (RP) affects 2.5 million people worldwide. Increased identification of causative gene defects and the increasing possibility of treatment necessitates better knowledge of phenotype-genotype correlations to help identify pati ...
Inherited retinal diseases (IRDs) form a group of diverse disorders that lead to the degeneration of the light-sensing cells of the retina: the photoreceptors. IRDs are among the leading causes of blindness in working-age adults living in industrialized co ...
Retinal prostheses hold the promise of restoring vision in totally blind people. However, a decade of clinical trials highlighted quantitative limitations hampering the possibility of reaching this goal. A key challenge in retinal stimulation is to indepen ...
The COVID-19 pandemic outbreak is causing a dramatic worsening in the already complicated living conditions of blind and visually impaired individuals. Social distancing is the most effective strategy to limit virus spread, but is extremely difficult for b ...
Over the last decades, implantable neural interfaces have been extensively explored and effectively deployed to address neurological and mental health disorders. The existing solutions present several limitations. Firstly, the physical size of the implanta ...
In the last few years, stroke ranked as the second most common cause of death and is the third most significant condition affecting disability-adjusted life years (DALYs) worldwide. Being the most prevalent and quality of life impacting post-stroke symptom ...
NR2E3, also called photoreceptor-specific nuclear receptor (PNR), is a transcription factor of the nuclear hormone receptor superfamily whose expression is uniquely restricted to photoreceptors. There, its physiological activity is essential for proper rod ...
