Results 11 to 20 of about 9,112 (206)
Paramacular Choriocapillaris Atrophy
Biomedicines, 2023 In this paper, a review of a rare case of paramacular choriocapillaris atrophy with a foveal-sparing phenotype is carried out. The 73-year-old patient stated that they had impaired vision and photophobia in both eyes during a regular ophthalmological ...
Ivona Bućan, Kajo Bućan
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Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. [PDF]
PLoS ONE, 2017 Peripherin (peripherin/rds) is a membrane-associated protein that plays a critical role in the morphogenesis of rod and cone photoreceptor outer segments.
Ayse Sahaboglu +5 more
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Negative regulation of the novel norpA(P24) suppressor, diehard4, in the endo-lysosomal trafficking underlies photoreceptor cell degeneration. [PDF]
PLoS Genetics, 2013 Rhodopsin has been used as a prototype system to investigate G protein-coupled receptor (GPCR) internalization and endocytic sorting mechanisms. Failure of rhodopsin recycling upon light activation results in various degenerative retinal diseases ...
Jongwoo Lee +2 more
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Antioxidants, 2020 Oxidative stress represents one of the principal inductors of lifestyle-related and genetic diseases. Among them, inherited retinal dystrophies, such as age-related macular degeneration and retinitis pigmentosa, are well known to be susceptible to ...
Luigi Donato +5 more
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INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]
The Journal of Cell Biology, 1962 Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
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Gene therapy for retinal dystrophy [PDF]
Nature Medicine, 2019 Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber congenital amaurosis type 10—a severe untreatable retinal dystrophy leading to childhood blindness.
Sahel, José-Alain, Dalkara, Deniz
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Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies
Ophthalmology and Therapy, 2020 Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells.
Maria Vittoria Cicinelli +5 more
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Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases
Antioxidants, 2022 Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
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Clinical trials in retinal dystrophies
Middle East African Journal of Ophthalmology, 2016 Research development is burgeoning for genetic and cellular therapy for retinal dystrophies. These dystrophies are the focus of many research efforts due to the unique biology and accessibility of the eye, the transformative advances in ocular imaging technology that allows for in vivo monitoring, and the potential benefit people would gain from ...
Grob, Seanna R. +3 more
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Gene panel sequencing in Brazilian patients with retinitis pigmentosa
International Journal of Retina and Vitreous, 2017 Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a ...
Kárita Antunes Costa +4 more
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