IRDs are a group of rare diseases associated with an inherited gene mutation affecting the retina that involve deterioration of vision and result in eventual blindness.
Beyond Clinical Diagnosis
Signs and symptoms
There are a range of different signs and symptoms that you might experience, beyond problems with your vision. These vary because of the number of diseases that are included in the term inherited retinal dystrophy. Below are signs of vision problems that might prompt a doctor to do more tests. This list highlights some of the problems you might see across different types of IRD.
A genetic diagnosis is where genetic testing is used to tell you what gene mutation is causing your IRD. It’s used to validate and confirm the clinical diagnosis and find out exactly what is wrong. Genetic testing involves looking at your DNA, usually from a blood sample, and sequencing your genes to find the specific mutations related to your IRD.
Lutein, zeaxanthin, and β-carotene belong to a class of nutrients called carotenoids. β-carotene is used to make vitamin A in the body, which is necessary for the retina to detect light and convert it into electrical signals. Lutein and zeaxanthin are present in the retina and lens, and can help to absorb harmful high-energy blue lights and ultraviolet rays. 12 mg of lutein is recommended each day to help improve the loss of visual field sensitivity.
Gene therapy uses molecular biology techniques and appropriate viruses as carriers to implant normal gene sequences into human retinal photoreceptor nerve cells and transcribe the correct protein fragments. The goal is to improve the physiological abnormalities caused by the original gene defects or abnormalities in the body in order to improve physiological performance, treat diseases, or reduce the rate of deterioration. At present, there are specific gene therapy R&D progresses made for gene therapy.
The retinal artificial chip manufactured using bionic technology is primarily developed to transmit light stimulation through the crystal to the omentum tissue of the blind patient whose photoreceptor cells have been damaged, and then transmit the signals to the brain via the optic nerve. Earlier studies have confirmed that some light perception can be restored for patients who are completely blind. There are different surgical implant methods such as “upper retina implantation” and “lower retina implantation” depending on the chip design.