More than half of people with mitochondrial disease can be diagnosed via genomic sequencing, a finding that will revolutionize care for families, according to a new study. And the Melbourne researchers have discovered what ...
Oct 30, 2024
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An international team of researchers has identified new drug targets for therapies that could benefit patients with different forms of retinitis pigmentosa and other inherited retinal diseases. Using advanced proteomics techniques, ...
Oct 16, 2024
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Results of the first clinical trial of Australia's second-generation bionic eye have demonstrated 'substantial improvement' in four participants' functional vision, daily activities and quality of life over a period of more ...
Jun 7, 2024
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Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile ...
Apr 19, 2024
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Sight loss in certain inherited eye diseases may be caused by gut bacteria, and is potentially treatable by antimicrobials, finds a new study in mice co-led by a UCL and Moorfields researcher.
Feb 26, 2024
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A research team has successfully incorporated anti-inflammatory drugs into a hydrogel to suppress inflammation in the retina and effectively deliver the drugs to the inflamed area.
Feb 14, 2024
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A cluster of cases of ocular syphilis has been reported in Michigan, US. The five women infected all contracted the disease from the same sexual partner.
Dec 1, 2023
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There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases. Now, a team from the University of Barcelona has described how the lack ...
Sep 18, 2023
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Alternative splicing, a clever way a cell generates many different variations of messenger RNAs—single-stranded RNAs involved in protein synthesis—and proteins from the same stretch of DNA, plays an important role in ...
Jun 20, 2023
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What cell types are found in which human tissue, and where? Which genes are active in the individual cells, and which proteins are found there? Answers to these questions and more are to be provided by a specialized atlas—in ...
May 8, 2023
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Retinitis pigmentosa (RP) is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some sight all their lives. Others go completely blind from RP, in some cases as early as childhood. Progression of RP is different in each case.
RP is a type of progressive retinal dystrophy, a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina lead to progressive visual loss. Affected individuals first experience defective dark adaptation or nyctalopia (night blindness), followed by reduction of the peripheral visual field (known as tunnel vision) and, sometimes, loss of central vision late in the course of the disease.
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