DHDDS , molecular genetic testing is available on a research basis only. RP can be inherited in an autosomal dominant , autosomal recessive , X-linked or Y-linked  manner. X-linked RP can be either recessive , affecting primarily only males, or dominant , affecting both males and females, although males are usually more mildly affected. Some digenic controlled by two genes and mitochondrial forms have also been described. Genetic counseling depends on an accurate diagnosis, determination of the mode of inheritance in each family, and results of molecular genetic testing. Treatment[ edit ] There is currently no cure for retinitis pigmentosa, but the efficacy and safety of various prospective treatments are currently being evaluated.
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It refers collectively to a whole group of inherited eye diseases caused by gene mutations, which affect the central most region of the eye, the retina. Retinitis Pigmentosa RP is a disease condition that was first identified and named by Dr. Donders in Vision loss due to Retinitis Pigmentosa is a gradual but progressive journey spanned over many years. RP blindness is rare. Most people with this eye disease are left with some useful vision even into old age.
Usually, loss of night vision is recognized as the very first sign of RP, becoming apparent during childhood. This can make navigating in low light difficult. Later, these blind spots start developing in peripheral side vision, which eventually merge together to produce tunnel vision.
An estimated , people in the U. It takes years or even decades until RP can affect your central vision, which is what you need for detailed tasks, such as reading, writing, driving and even for face recognition. Many people suffering from RP can lead to the level of legal blindness in their adulthood.
Most people with RP are legally blind by age 40, with a central visual field of less than 20 degrees in diameter. Types of Retinitis Pigmentosa As stated earlier, RP represents a diverse group of genetic eye diseases, which can be inherited from one or both of the parents.
Retinitis Pigmentosa may be caused by mutation in any of at least 50 genes So, here are some major examples of RP related eye problems. It can cause deafness in addition to gradual vision loss in infants, sometimes also affecting the balance.
Scientists have been able to identify 3 types of Usher syndrome 1, 2 and 3. Vision loss due to it starts developing in childhood or adolescence. It can also result in a range of eye-related abnormalities. Some of them include deep-set eyes, roving eye movements and bright light sensitivity. Abnormalities in central nervous system have also been associated with LCA.
The gradual deterioration caused by CDR leads to vision loss over a period of time. Similarly, different names are used to refer to this eye disease. Some common of them include pigmentary retinopathy, rod-cone dystrophy, RP and tapetorential degeneration.
Get your 30 days free trial for IrisVision right now. Get a days risk-free trial for yourself, a patient, or a loved one and find out if IrisVision is the right low vision aid for you. Some major of them include: Night Blindness: Your inability to see anything in dark refers to night blindness, though you may still be enjoying a perfectly normal vision during the day.
You start taking longer in adjusting to darkness as night blindness starts creeping into your life. For instance, driving at dusk and dawn becomes more challenging, just like seeing a movie in a theater or a dimly light room. Tunnel Vision: Tunnel vision refers to a gradual narrowing down of your peripheral or side vision, so much so that your field of vision becomes restricted to straight-ahead vision only. Loss of Central Vision: Losing central vision is also considered as one of the symptoms of retinitis pigmentosa, which makes detail-oriented tasks like reading, writing, threading a needle or recognizing faces extremely difficult for you.
Problematic Color Vision: For some people, color vision can also become a problematic proposition after suffering from retinitis pigmentosa. Retinitis Pigmentosa Treatment Options Unfortunately, retinitis pigmentosa cure is still not available, though various retinitis pigmentosa treatment options exist. It is aimed at replacing the faulty gene present in the affected retinal cells, relying on a harmless virus to carry the new genetic material after being directly injected into the affected region of the retina.
The issue, however, remains finding the problematic gene s , which we still need to discover for many cases of RP. Now, one of the specialties of stems cells is to replicate and grow as the cells of almost any type. Stem cell therapy for retinitis pigmentosa holds the potential of replacing the damaged areas of an affected retina and retinitis pigmentosa stem cell research plays the key role in finding a feasible mechanism of doing so.
Researchers around the world are exploring the potential of using growth factors to treat retinal diseases, hoping to successfully repair or protect the retinal cells from further damage. In fact, such implants are already available to RP blindness victims in U.
S and Europe. You can get vision restoration of a very basic level with these bionic eyes, mostly confined to the identification of basic shapes and movements.
As of now, you cannot get reading assistance with these. Your freedom of movement is the ultimate victim of anything leading you to vision loss. So, minimizing the negative impacts of vision loss on these aspects of your life should be the top priority of your efforts to manage vision loss. I find it quite ironic that most people fail to realize the importance of getting their eye exam on a regular basis.
All types of degenerative retinal eye diseases share one thing in common, the sooner they are detected, the higher are the chances to prevent or slow down the damage. Improving your way of life and following optimal eye health tips also ensure that a healthy vision lasts you a lifetime. However, if you get to the point where RP blindness start to affect your freedom of movement, resorting to low vision aids can be one of the best decisions of managing your vision loss.
Though a low vision aid like IrisVision might not be able to restore your already damaged retinal cells, but it can sure restore your freedom of movement and confidence by helping you make the most of your leftover vision, just like these people already using IrisVision.
¿Qué es la retinitis pigmentaria?