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Treatments For Retinitis Pigmentosa?
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. 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.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. 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.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. 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.Sources: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.https://pubmed.ncbi.nlm.nih.gov/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.https://pubmed.ncbi.nlm.nih.gov/29097191/https://www.fightingblindness.org/genetic-testing
4 min read
Epiretinal Membrane (Macular Pucker): Causes, Symptoms, and Treatment
A macular pucker is a more casual name for what ophthalmologists call an epiretinal membrane. The phrase “epi” means to be above, and “retinal” refers to the retina of a patient. This essentially means that an epiretinal membrane, abbreviated as ERM, is abnormal tissue that lies above the retina. The part of the retina that this usually happens in, is called the macula. The macula is the center part of the retina. Because this membrane can pull onto the macula and it can also wrinkle and crease, the more casual term for it is macular pucker. In order for a person to have clear central vision, it is important that the macula lies flat. If the macula is puckered, pulled or wrinkled it can cause visual problems. If you have an ERM, you have two options. One is to monitor it, and the other is surgical intervention. Surgery for epiretinal membrane is done when the macular pucker is causing issues.So, what causes an epiretinal membrane? Before we get into what causes an ERM, let’s talk a little bit about the anatomy of the eye. In the simplest terms, the eye is a ball that is filled with liquid. One of these liquid substances is called the vitreous. The vitreous sits between the lens of the eye and the retina. As all people get older the vitreous begins to change. It will shrink, break up and also start to pull away from the retina of the eye. This pulling or traction can then lead to the formation of an epiretinal membrane. Risk factors for this happening include previous eye surgery like repair of a retinal detachment, age above 50, and also having a PVD (posterior vitreous detachment). In some cases if you have a macular hole, scar tissue can form over it resulting in an epiretinal membrane. In some cases, there is no specific cause leading up to an ERM.As mentioned above, the most common symptoms of macular pucker or of an epiretinal membrane are blurry vision or visual distortion. Because the macula is responsible for seeing fine detail and seeing distance, the blurry vision can be constant. In addition to blurry vision, patients may experience visual distortion. Visual distortion means that a straight line may appear wavy to someone who has an epiretinal membrane. A patient may cover their abnormal eye and see the line as straight with the eye that is normal. But when they switch to cover the normal eye and only look at the line with the eye that has the ERM, the line may appear wavy or crooked. Because the macula is in the center of your retina, an epiretinal membrane does not affect a person’s peripheral vision. Less common symptoms of macular pucker are a blind spot in the center of the vision or a graying of the central vision. The symptoms that are not associated with a macular pucker or ERM are pain and redness. If a patient is having eye pain or eye redness, it is likely due to an issue that is unrelated to an ERM. An epiretinal membrane can only be seen by an eye doctor. The most skillful eye doctor to evaluate and treat an epiretinal membrane is an ophthalmologist and if you have one in your area, a retina specialist. It is important to note that the symptoms of a macular pucker tend to happen gradually. This is different from eye problems like retina detachments where the vision can become very blurry over the course of a few hours. In macular pucker, the vision may become blurry over weeks to months. If you think you are experiencing symptoms of macular pucker, it is important to see an ophthalmologist. Your ophthalmologist can be a general ophthalmologist or a more specialized ophthalmologist called a retina specialist. In order to get the best view of your retina, the ophthalmologist will need to make your pupil bigger through a process called dilation. Two dilating drops called Phenylephrine and Tropicamide are usually used to make your pupil bigger. Dilating drops typically take 20 to 40 minutes to dilate your eye. After dilation, the ophthalmologist will use a special lens to look at the retina and more specifically at the macula (where your central vision comes from).After examining your macula, there will be a special test performed called an OCT. OCT stands for optical coherence tomography. This test takes a photographic scan of the retina. It does not hurt and only takes a few seconds to complete. It is important to follow the doctor or technicians instructions so that a high quality study can be obtained. If you have an ERM, the doctor should be able to see in on the OCT scan. It is important to remember than most vision insurance plans do not cover advanced medical testing. You may need to use your medical health insurance in order to have your OCT done. In some cases, a macular pucker may cause no symptoms or very little symptoms. In many of these patients, it is reasonable to monitor the patient closely. If visual symptoms begin to develop or the ophthalmologist sees changes that are concerning, they may advise surgery. There is no eye drop that can treat macular pucker. The only option is surgery. The name of the surgery is called a vitrectomy. The first part of this word stands for vitreous, the gel like substance that fills the eye. The second part of this word stands for removal. Thus, in a vitrectomy, the vitreous is removed. By removing the vitreous it is no longer able to pull on the retina. After the vitreous is taken out, the epiretinal membrane is peeled off the eye. Then, the eye is filled with a combination of air and special gas.Although this surgery should improve your vision over time, the recovery will not be immediate. In many cases the vision may not be as good as it was before you had the ERM to begin with. This is why some mild cases of macular pucker are monitored by ophthalmologists and retina specialists. Only when an ERM becomes a problem is when it is operated on. Sources:Hirakata T, Hiratsuka Y, Yamamoto S, Kanbayashi K, Kobayashi H, Murakami A. Risk factors for macular pucker after rhegmatogenous retinal detachment surgery. Sci Rep. 2021 Sep 14;11(1):18276. doi: 10.1038/s41598-021-97738-x. PMID: 34521926; PMCID: PMC8440624.https://pubmed.ncbi.nlm.nih.gov/34521926/Kanukollu VM, Agarwal P. Epiretinal Membrane. 2022 Mar 16. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. PMID: 32809538.https://pubmed.ncbi.nlm.nih.gov/32809538/Yusuf AM, Bizrah M, Bunce C, Bainbridge JW. Surgery for idiopathic epiretinal membrane. Cochrane Database Syst Rev. 2021 Mar 24;3(3):CD013297. doi: 10.1002/14651858.CD013297.pub2. PMID: 33760235; PMCID: PMC8095007.https://pubmed.ncbi.nlm.nih.gov/33760235/
6 min read