Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye). RP causes the breakdown of photoreceptor cells (cells in the retina that detect light). Photoreceptor cells capture and process light helping us to see. As these cells breakdown and die, patients experience progressive vision loss. The most common feature of all forms of RP is a gradual breakdown of rods (retinal cells that detect dim light) and cones (retinal cells that detect light and color). Most forms of RP first cause the breakdown of rod cells. These forms of RP, sometimes called rod-cone dystrophy, usually begin with night blindness. Night blindness is somewhat like the experience normally sighted individuals encounter when entering a dark movie theatre on a bright, sunny day. However, patients with RP cannot adjust well to dark and dimly lit environments.
The development of “mini eyes” by researchers at the UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) has made it possible to study and comprehend the onset of blindness in the rare genetic disease known as Usher syndrome more.
Researchers from Johns Hopkins Medicine claim to have successfully “slid” genetic instructions into a cell and produced essential proteins that were lacking from those cells using a cell’s normal process for creating proteins.
Srrm3 is a master regulator gene essential for the growth of photoreceptors, cells in the rear of the retina that catch and process light and transmit signals to the brain that allow vision, according to research, from the Centre for Genomic Regulation (CRG) in Barcelona.
Researchers have discovered the structural determinants of the highly specialized rod outer segments membrane architecture of the eye, which plays a crucial role in vision.
Every 6 minutes someone is told they're going blind. One of the major causes of human blindness is a disease called Retinitis Pigmentosa (RP), which causes progressive degeneration of the retina and vision loss.
AZoLifeSciences speaks to Dr. Raymond Wong about his latest research into eye health and we could potentially 'switch on' sight using gene therapy.
An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases.
A gene therapy protects eye cells in mice with a rare disorder that causes vision loss, especially when used in combination with other gene therapies, shows a study published today in eLife.
Bioinformatics, and by extension omic sciences - the collective disciplines that are dependent on the use of extensive datasets of biological information - present a challenge of data management for researchers all over the world.
Researchers at University of California San Diego School of Medicine have launched a first-in-human Phase I clinical trial to assess the safety and efficacy of a gene therapy to deliver a key protein into the brains of persons with Alzheimer's disease (AD) or Mild Cognitive Impairment (MCI), a condition that often precedes full-blown dementia.
Vision loss associated with inherited genetic disease or aging is predicted to affect as many as 16 million people in the world.
New insight on how people with retinal degenerative disease can maintain their night vision for a relatively long period of time has been published today in the open-access eLife journal.
Retinitis pigmentosa is the most prevalent form of congenital blindness. Using a retinitis pigmentosa mouse model, researchers from Ludwig-Maximilians Universitaet (LMU) in Munich have now shown that targeted activation of genes of similar function can compensate for the primary defect.
A study performed on canines at the University of Helsinki characterizes a gene variant in the regulatory region of the retina that causes abnormal functioning of retinal genes and, ultimately, leads to loss of vision in dogs.