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Visual comfort is important to the wellbeing of people and their productivity. However, too much light in the field of view can cause discomfort and disability glare. Under certain conditions it can even cause accidents. This paper addresses the disability ...
The importance of light not only as a therapeutic tool but as an essential element of healthy living has been highlighted by the recent discovery of a specialized photoreceptor in the eye responsible for synchronizing our internal circadian pacemaker. This ...
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 ...
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 ...
Cellular signaling mediated by Notch receptors results in coordinated regulation of cell growth, survival and differentiation. In melanocytes, Notch signaling is essential for the maintenance of melanocytes and the melanocyte stem cell population. Whereas, ...
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 ...
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and gl ...
The ADAMTS family comprises 19 secreted metalloproteinases that cleave extracellular matrix components and have diverse functions in numerous disease and physiological contexts. A number of them remain 'orphan' proteases, among them ADAMTS18, which has bee ...
Retinal gene therapy could potentially affect the lives of millions of people suffering from blinding disorders. Yet, one of the major hurdles remains the delivery of therapeutic nucleic acids to the retinal target cells. Due to the different barriers that ...
Glaucoma is an irreversible disease affecting the eye, leading to progressive loss of vision and eventually to total blindness. It is often related to high intraocular pressure (IOP), which results from increased outflow resistance to aqueous humor. The fi ...
