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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 ...
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 ...
Membrane transporters influence biological functions in the ocular lens. Here, we investigate the monocarboxylate transporter 12 (MCT12), also called creatine transporter 2 (CRT2), which is found in the ocular lens and is involved in cataract. As the age-r ...
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 ...
Purpose:Currently, there is no known cure for Retinitis pigmentosa (RP). Even if some treatments can slow down the progression of the disease, none of them can effectively stop retinal degeneration. We exploited the possibility of an early intervention in ...
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital a ...
Studies of the real-time dynamics of embryonic development require a gentle embryo handling method, the possibility of long-term live imaging during the complete embryogenesis, as well as of parallelization providing a population's statistics, while keepin ...
Ageing affects many visual functions. Here, we investigated the effects of ageing on vernier acuity and backward masking using the shine-through paradigm. We divided healthy older adults (> 60 years) into two groups depending on whether vernier duration wa ...
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 ...