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Cost of treating rare genetic blindness: $425,000 per eye

Treatment of a rare, inherited form of blindness will cost $425,000 per eye, the company bringing the therapy to market announced on Wednesday.
Source: Health News - UPI.com - Category: Consumer Health News Source Type: news

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This study aimed to investigate the relationship between glaucoma and the LC in patients with POAG and animal models. Resting-state functional MRI was performed using a 3-Tesla MR scanner with an eight-channel phased-array head coil, and MRI data were analyzed. A rat model of chronic glaucoma was generated by episcleral vein ligation and cauterization. DBA/2J mice that develop glaucoma with age were also acquired. Immunohistochemistry and immunofluorescence staining were used to investigate LC tyrosine hydroxylase (TH) and dopamine β-hydroxylase (DβH) expression, as well as cell apoptosis by terminal deoxynucleot...
Source: Neuroscience - Category: Neuroscience Source Type: research
This study aimed to evaluate the current prevalence and causes of visual impairment among adults who were 50 years old and older in the Binhu District of Wuxi City, China. MATERIAL AND METHODS A randomized sample of stratified clusters was used to analyze individuals from 30 basic sampling units in Wuxi Binhu District. Visual impairment was defined according to World Health Organization (WHO) standards. RESULTS A total of 6725 people who were at least 50 years old participated in this study. According to WHO standards, bilateral low vision and blindness prevalence were both higher in women than in men (low vision: 6.5% vs....
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
IJERPH, Vol. 15, Pages 157: Diabetic Retinopathy Screening: A Systematic Review on Patients’ Non-Attendance International Journal of Environmental Research and Public Health doi: 10.3390/ijerph15010157 Authors: Rahima Kashim Paul Newton Omorogieva Ojo Diabetic Retinopathy is a microvascular complication of diabetes, that can go undetected and unnoticed until irreversible damage and even blindness has occurred. Effective screening for diabetic retinopathy has been proven to reduce the risk of sight loss. The National Health Service (NHS) which provides healthcare for all UK citizens, implemented systematic...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Review Source Type: research
Mutations in the MYO7A gene, encoding the motor protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and the shaker-1 phenotype, characterized by deafness, head tossing, and circling behavior, in mice. Myosin VIIa is responsible for tension bearing and the transduction mechanism in the stereocilia and for melanosome transport in the retina, in line with the phenotypic outcomes observed in mice. However, the effect of the shaker-1 mutation, a R502P amino acid substitution, on the motor function is unclear. To explore this question, we determined the kinetic properties and the effect on the filop...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Enzymology Source Type: research
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Source: Stem Cells - Category: Stem Cells Authors: Tags: Embryonic Stem Cells/Induced Pluripotent Stem Cells Source Type: research
J Neurol Surg B DOI: 10.1055/s-0038-1623528Tuberculum Sellae Meningiomas (TSMs) are lesions dramatically related to the optic apparatus once the principal clinical complain remains on visual alterations. This is the main picture on decision making to evaluate the best time, risk-benefit, and surgical approaches to the patient treatment. In this video, we present a 65 years old female with 30 days complaint of unilateral (right) complete blindness and complete impaired right eye field test. On physical examination, there were normal pupillary function to light tests. The scans demonstrated the presence of a TSM mostly relat...
Source: Journal of Neurological Surgery Part B: Skull Base - Category: Neurosurgery Authors: Tags: Skull Base: Operative Videos Source Type: research
Publication date: Available online 18 January 2018 Source:The Lancet Author(s): Michel Boussinesq
Source: The Lancet - Category: General Medicine Source Type: research
A man in a flagship stem cell trial for age-related macular degeneration has swelling in his eye, but the cause is probably surgery – not stem cells
Source: New Scientist - Health - Category: Consumer Health News Source Type: research
Conclusions: This case demonstrates the ophthalmologist ’s critical role in the diagnosis and management of NXG, as early detection cannot only prevent ophthalmic consequences such as ocular perforation and blindness, but also prompt further investigation that may reveal an underlying disorder or systemic involvement, including hematologic malignancy a s in this case. NXG has been effectively treated with IVIG in a handful of reported cases. To the author’s knowledge, this is the third case of periorbital NXG successfully treated with IVIG, and the first in the ophthalmic literature.Case Rep Ophthalmol 2018;9:70 –75
Source: Case Reports in Ophthalmology - Category: Opthalmology Source Type: research
Conclusion: A new regimen, in addition to standard treatment, for severe chemical burns is proposed. This involves tumor necrosis factor alpha (TNF-α) inhibition promptly after the accident (primarily for retinal neuroprotection), prophylactic maximal lowering of the intraocular pressure (starting immediately), and keratoprosthesis implantation in a later quiet state.
Source: Cornea - Category: Opthalmology Tags: Special Article Source Type: research
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