retinitis pigmentosa/نقص الأكسجة

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Ambient hypoxia reverses retinal vascular attenuation in a transgenic mouse model of autosomal dominant retinitis pigmentosa.

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OBJECTIVE Loss of retinal capillaries is an inherent component of late stage autosomal dominant retinitis pigmentosa (ADRP). This study examined the hypothetical role of tissue hyperoxia in this vascular attenuation process and tested the potential of ambient hypoxia to reverse

Autosomal dominant retinitis pigmentosa-associated gene PRPF8 is essential for hypoxia-induced mitophagy through regulating ULK1 mRNA splicing.

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Aged and damaged mitochondria can be selectively degraded by specific autophagic elimination, termed mitophagy. Defects in mitophagy have been increasingly linked to several diseases including neurodegenerative diseases, metabolic diseases and other aging-related diseases. However, the molecular

The role of perinatal stress in simplex retinitis pigmentosa: evidence from surveys in Australia and the United States.

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BACKGROUND In experimental models of several forms of human retinitis pigmentosa (RP) the dystrophy begins in the neonatal period, during a "critical period" in which photoreceptors are sensitive to hypoxia. We performed a study to test whether perinatal stress is associated with human RP,

Novel Insights into Beta 2 Adrenergic Receptor Function in the rd10 Model of Retinitis Pigmentosa

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Background: In retinitis pigmentosa (RP), inherited rod death is followed by cone loss and blindness. Why cones die is still a matter of consideration. Here, we investigate the pathogenic role of the sympathetic transmission in the rd10 mouse model of RP. Methods: Retinal levels of

Anti-Aging Approach for Ocular Disorders: from Dry Eye to Retinitis Pigmentosa and Myopia.

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More than 90% of ocular diseases, such as glaucoma, age-related macular degeneration, and dry eye, are age-related with the incidence increasing with age. Furthermore, although retinitis pigmentosa and myopia may be associated with hereditary factors, they are also considered age-related diseases

HIF-1α stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa.

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Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive and irreversible loss of vision due to rod and cone degeneration. Evidence suggests that an inappropriate oxygen level could contribute to its pathogenesis. Rod cell death could increase oxygen

Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro.

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Retinitis pigmentosa (RP), a genetically heterogeneous group of diseases together with age-related macular degeneration (AMD), are the leading causes of permanent blindness and are characterized by the progressive dysfunction and death of the light sensing photoreceptors of the retina. Due to the

Oxygen-dependent diseases in the retina: role of hypoxia-inducible factors.

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The function of the retina is sensitive to oxygen tension. Any change in the perfusion pressure of the eye affects the retina although the eye is able to autoregulate its hemodynamics. Systemic hypoxemia (lung or heart disease) or a vascular disease in the retina can cause retinal hypoxia. All the

S (blue) cone pathway vulnerability in retinitis pigmentosa, diabetes and glaucoma.

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A variety of retinal disease lead to a decrease in the sensitivity of the S (blue) cone pathways. To determine the possible sites and mechanisms of this loss we compared the sensitivities of an S (blue/pi-1) and an M (green/pi-4) cone pathway in patients with retinal diseases that differ as to their

[The central vitreo-retinal fibroplastic (edematous-fibroplastic) syndrome (author's transl)].

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This term comprises a series of symptoms with a common pathogenesis. The disease begins with disseminated foci of paravascular fibroplasia which are ophthalmoscopically visible as "stationary reflexes" (Vodovozev 1963). These foci result in the formation of vitreo-retinal adhesions. A posterior

Multifocal electroretinography changes in the macula at high altitude: a report of three cases.

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BACKGROUND To evaluate the short- and long-term effects of high-altitude hypobaric hypoxia on macula morphology and function during ascents, acclimatizations, and descents between 500 m and 5,650 m, macula function was evaluated in three healthy climbers of a trekking expedition. METHODS Macula

Retinopathy is reduced during experimental diabetes in a mouse model of outer retinal degeneration.

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OBJECTIVE Diabetic patients who also have retinitis pigmentosa (RP) appear to have fewer and less severe retinal microvascular lesions. Diabetic retinopathy may be linked to increased inner retinal hypoxia, with the possibility that this is exacerbated by oxygen usage during the dark-adaptation

pVHL interacts with Ceramide kinase like (CERKL) protein and ubiquitinates it for oxygen dependent proteasomal degradation.

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Mutations of Ceramide kinase-like (CERKL) gene are associated with retinitis pigmentosa (RP), an inherited degenerative eye disease. CERKL encodes an antioxidant protein which is critical to photoreceptor survival, its deficiency causes retinal degeneration as a result of oxidative damage. However,

Low sensitivity of retina to AMPA-induced calcification.

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Glutamate is involved in most CNS neurodegenerative diseases. In particular, retinal diseases such as retinal ischemia, retinitis pigmentosa, and diabetic retinopathy are associated with an excessive synaptic concentration of this neurotransmitter. To gain more insight into retinal excitotoxicity,

Differential metabolic consequences of fumarate hydratase and respiratory chain defects.

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Defects of the oxidative ATP production pathway lead to an amazing variety of disease phenotypes, ranging from childhood encephalomyopathies to hereditary tumor formation. A key enzyme of tricarboxylic cycle, fumarate hydratase (FH), is involved in encephalopathies, but also in leiomyoma formation,

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