Retinitis Pigmentosa is a very challenging disease for patients and doctors because there is no currently no cure. There are also very limited treatment options, if any, for the majority of patients with Retinitis Pigmentosa.
Vitamin A For Retinitis Pigmentosa?
There was previous thinking that high doses of Vitamin A are helpful in retinitis pigmentosa. Newer research has shown that this is not the case. Most ophthalmologists and retina specialists do not prescribe high-dose Vitamin A anymore. There are risks to high dose Vitamin A and there is no clear benefit in patients with RP taking it.
Genetic Testing In Retinitis Pigmentosa
There are many different genetic defects that can cause RP. There may be some value in having genetic testing for retinitis pigmentosa. The disease can be inherited in many different ways. Genetic testing is not something that every eye doctor is able to do. In fact, most ophthalmologists will only treat a handful of RP patients in the course of their career. The genetic testing for retinitis pigmentosa is very specific and is usually done at a large research center. You can ask your ophthalmologist where genetic testing for retinitis pigmentosa is done in your area.
Retinitis Pigmentosa is a rare and uncommon disease. It is usually inherited. Genetic testing can be helpful to help a patient better understand their disease and how it may progress or get worse over their lifetime. It can also help patients understand the pattern of inheritance which can provide insight into what other family members should be screened for the disease. Perhaps the most important part of having genetic testing is so that patients can stay informed about any new treatments that may be available to them. If there is a clinical trial being done for a certain rare disease, staying up to date on this may give patients an opportunity to try a novel treatment. Gene therapy is being actively investigated and studied for this disease.
Symptoms Of Retinitis Pigmentosa
Retinitis Pigmentosa is found in one of two ways. The first way is at a dilated eye exam. On a dilated eye exam, an ophthalmologist may see what is called “bone-spicule” changes in the retina. If this is seen, the eye doctor will then order further testing to determine the extent of vision loss if any.
The second way RP is found is when a patient comes in complaining of symptoms, and these can start in the adolescent and teenage years. The most common symptom is a loss of vision at night or having a very hard time seeing things at night. The symptoms usually happen in both eyes because it is rare for RP to affect just one eye.
If a child is young and can’t express themselves, the parent may come in complaining that their child has difficulty in low lighting. In addition to night vision difficulty, patients with RP will also have peripheral vision loss. A visual field is usually done by an ophthalmologist to evaluate and monitor a patient’s peripheral vision. Other symptoms of retinitis pigmentosa are sensitivity to bright lights, and loss of color vision. Patients may also develop a cataract, but fortunately this can be removed by a cataract surgeon.
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Almost all patients with RP will lose their vision entirely. How quickly a patient loses their vision is individual, and likely related to the specific genetic mutation that caused the RP. It is important for patients to start visual rehabilitation early so that they can prepare as best as possible for the visual difficulty they will experience later in life.
Treatments For Retinitis Pigmentosa: Take Home Points
There is no cure for retinitis pigmentosa. All patients with it will eventually lose most of their vision. How quickly someone loses vision is individual. RP usually happens in both eyes. If your doctor finds suspicion of retinitis pigmentosa in one eye only, you may need to undergo testing and blood work for other causes of your retinal changes. Genetic testing and visual rehabilitation can be helpful for patients with RP. Gene therapy and stem cell therapeutic treatments are currently being investigated. Gene therapy has the potential to treat RP by replacing or silencing the gene responsible for RP.
Fahim A. Retinitis pigmentosa: recent advances and future directions in diagnosis and management. Curr Opin Pediatr. 2018 Dec;30(6):725-733. doi: 10.1097/MOP.0000000000000690. PMID: 30234647.
Dias MF, Joo K, Kemp JA, Fialho SL, da Silva Cunha A Jr, Woo SJ, Kwon YJ. Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. Prog Retin Eye Res. 2018 Mar;63:107-131. doi: 10.1016/j.preteyeres.2017.10.004. Epub 2017 Oct 31. Erratum in: Prog Retin Eye Res. 2018 Sep;66:220-221. PMID: 29097191.