One study was recently published in June 2012 in the Archives of Ophthalmology: ω - 3 Intake and Visual Acuity in Patients
With Retinitis Pigmentosa Receiving Vitamin A (Arch Ophthalmol.
Researchers have used gene therapy to safely restore vision in three young adults with a form
of retinitis pigmentosa known as Leber's congenital amaurosis (LCA), an inherited retinal disorder that reduces...
Pr J.A. Sahel (chief of the «Institut de la Vision» — Inserm, CNRS, Université Paris VI), a member of the French Académie des Sciences, then presented a cell therapy phase I clinical trial project
for retinitis pigmentosa developed in collaboration with I - Stem.
Intriguingly, an identical homozygous mutation was identified in a human patient with
recessive retinitis pigmentosa, the human equivalent of PRA, and established the novel retinal gene, PRCD, as an important gene for the maintenance of rod photoreceptor structure and function across species.
The gene identified as a cause of PRA in the Swedish vallhund is associated with a form of
human retinitis pigmentosa (RP), one of the most common incurable blindness worldwide.
The Duke scientists first examined the retinas of young rats that were genetically predisposed to an eye disease which causes progressive blindness similar to a disorder
called retinitis pigmentosa in humans.
Genetic diseases
like retinitis pigmentosa destroy the photosensitive cells of the eye, the photoreceptors, but often leave intact the other cells in the retina: the bipolar cells that the photoreceptors normally talk to, and the ganglion cells that are the retina's output to the brain.
Samantha de Silva and colleagues used a viral vector to express a light sensitive protein, melanopsin, in the residual retinal cells in mice which were blind
from retinitis pigmentosa, the most common cause of blindness in young people.
«We wanted to identify some potential therapeutic targets that are common not just to one but to multiple forms of
retinitis pigmentosa at late - stage disease, when it is more likely to be clinically diagnosed in a patient population.»
The finding could pave the way for new treatments for the blinding mutations that afflict nearly 1 in 3000 North Americans with autosomal
dominant retinitis pigmentosa (ADRP).
The researchers concluded that ʺmean annual rates of decline in distance and retinal visual acuities in adults with
retinitis pigmentosa receiving vitamin A, 15 000 IU / d, are slower over 4 to 6 years among those consuming a diet rich in ω - 3 fatty acids.
But it was another three decades before Klassen — who has used retinal progenitor cells to restore vision in mice, cats, dogs and pigs — could conduct human trials
involving retinitis pigmentosa.
Other devices and therapies in development include an implanted microchip, electrical stimulation therapy, implantable capsules of timed - release medication, nutrient therapies to reduce retinal damage and gene therapies to halt or
reverse retinitis pigmentosa.
His group studies inherited retinal diseases, with an emphasis
on retinitis pigmentosa (RP), a Mendelian disorder of photoreceptor (rod) degeneration affecting 1 in ~ 3,500 individuals.
Researchers have used cutting - edge stem cell technology to correct a genetic defect present in a rare blinding disorder, another step on a promising path that may one day lead to therapies to reverse blindness caused by common retinal diseases such as macular degeneration and
retinitis pigmentosa which affect millions of individuals.
The genetics of inherited vision disorders —
notably retinitis pigmentosa (RP) and age - related macular degeneration (AMD)-- are an area of intense research.
In the new paper, Roska and Busskamp tested the Jaws protein in the mouse retina and found that it more closely resembled the eye's natural opsins and offered a greater range of light sensitivity, making it potentially more useful for
treating retinitis pigmentosa.
Safety and Proof - of - Concept Study of Oral QLT091001 in
Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin: Retinol Acyltransferase (LRAT).
Retinitis pigmentosa covers a group of rare genetic disorders that cause retinal degeneration due to a loss of photoreceptors, the specialized cell - sensitive neurons that enable eyesight.
LCA, itself a type of early
onset retinitis pigmentosa, affects an estimated one out of every 30,000 - 81,000 newborns and causes progressive deterioration of the poor vision found in early childhood.
Thursday, Oct. 20, 9:30 - 9:45 am, Room 221, West Building Platform Presentation: Mutations in spliceosome - associated protein homolog CWC27 cause autosomal recessive
syndromic retinitis pigmentosa M. Xu, Baylor College of Medicine, et al
Symptoms of vitamin E deficiency include impaired balance, abnormal sensations, muscle weakness and vision problems due to damage to the retina — retinitis pigmentosa [1].
But someday all of them could offer a valid treatment
for retinitis pigmentosa as well as for age - related macular degeneration, which gradually destroys photoreceptors in the center of the retina and is the leading cause of blindness in adults over age 55.
Cinnamon's genetic layout — published in Genome Research — has already helped pin down the faulty gene responsible for blindness caused
by retinitis pigmentosa, a hereditary disease that causes blindness in kitties and in one in of every 3,500 people.
As you might guess, I'm keenly interested in the genetics of retinal diseases
like retinitis pigmentosa and macular degeneration.
Loss of, or diminished, retinal DHA leads to visual impairment and may play an important role in the development of blindness
from retinitis pigmentosa and other retinal degenerative diseases, as well as age - related macular degeneration (AMD), the foremost cause of blindness in people older than 50 years.
If successful, the treatment could be extended to address other degenerative eye diseases as well,
including retinitis pigmentosa and macular degeneration.
AGTC plans to use the net proceeds of the offering primarily to continue the development, preclinical and clinical trials of its product candidates for treating X-linked retinoschisis, achromatopsia and
X-linked retinitis pigmentosa.
The Argus II will help people blinded by the rare hereditary
disease retinitis pigmentosa or seniors suffering from severe macular degeneration.
The researchers performed whole genome sequencing in 16 unrelated patients with autosomal
recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote.
The dogs were chosen because they have inherited a genetic disease caused by the same gene defect as some patients with
human retinitis pigmentosa.
Patients that have a defective gene called RPE65 — which is responsible for producing a protein that makes light receptors in the eye — suffer from leber congenital amaurosis and
retinitis pigmentosa, yet now have hope.
Emerging technologies successfully stimulate retinas ravaged by
retinitis pigmentosa, age - related macular degeneration and other diseases to give sufferers a new lease on light
CNGB1 mutations have been previously associated with the corresponding human disease, human
retinitis pigmentosa.