Gene therapy restores vision in rd1 mice after removal of a confounding mutation in Gpr179 [PDF]
The rd1 mouse with a mutation in the Pde6b gene was the first strain of mice identified with a retinal degeneration. However, AAV-mediated gene supplementation of rd1 mice only results in structural preservation of photoreceptors, and restoration of the ...
Bainbridge, James W.B. +35 more
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Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration. [PDF]
Cell death in neurodegenerative diseases is often thought to be governed by apoptosis; however, an increasing body of evidence suggests the involvement of alternative cell death mechanisms in neuronal degeneration.
Blanca Arango-Gonzalez +16 more
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Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
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Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases
Adaptive optics (AO) retinal imaging enables individual photoreceptors to be visualized in the clinical setting. AO imaging can be a powerful clinical tool for detecting photoreceptor degeneration at a cellular level that might be overlooked through ...
Helia Ashourizadeh +6 more
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The detrimental effects of progression of retinal degeneration in the visual cortex
The leading cause of blindness in inherited and age-related retinal degeneration (RD) is the death of retinal photoreceptors such as rods and cones.
Anwesha Bhattacharyya
doaj +1 more source
Noninvasive, In Vivo Assessment of Mouse Retinal Structure Using Optical Coherence Tomography [PDF]
BACKGROUND: Optical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration.
Gesine Huber +84 more
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Metabolism Dysregulation in Retinal Diseases and Related Therapies
The human retina, which is part of the central nervous system, has exceptionally high energy demands that requires an efficient metabolism of glucose, lipids, and amino acids.
Yingying Chen +8 more
doaj +1 more source
Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. [PDF]
In glaucoma, harmful intraocular pressure often contributes to retinal ganglion cell death. It is not clear, however, if intraocular pressure directly insults the retinal ganglion cell axon, the soma, or both.
Richard T Libby +6 more
doaj +2 more sources
Progressive retinal degeneration and glial activation in the Cln6nclf mouse model of neuronal ceroid lipofuscinosis : a beneficial effect of DHA and Curcumin supplementation [PDF]
Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal storage disorders characterized by vision loss, mental and motor deficits, and spontaneous seizures.
Monica Langiu +19 more
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Inherited retinal degeneration due to loss of photoreceptor cells is a leading cause of human blindness. These cells possess a photosensitive outer segment linked to the cell body through the connecting cilium (CC).
Olivier Mercey +10 more
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