What is RP?
A progressive order that can begin in adolescence and lead to blindness is retinitis pigmentosa (RP). It is actually a group of rare and inherited diseases that cause the degeneration of the retina, which is an important structure located in the back of the eye. With RP, the patients of board-certified retina specialists, Dr. Shawn Agee and Dr. John Sullivan at Southeastern Retina Specialists, have an issue with the retina capturing images from their visual field, which greatly impacts sight and perception. The disease is also affected by the death of photoreceptor cells (rods and cones) in the eyes. It’s estimated that around 100,000 people in the U.S. suffer from retinitis pigmentosa.
Retinitis pigmentosa comes in several forms, which include:
- Bardet-Biedl syndrome
- Rod-cone disease
- Usher syndrome
- Leber’s congenital amaurosis
- Refsum disease
Causes and Symptoms
There are a number of causes of RP. Depending on whether rods or cones are involved from the beginning, this ultimately determines which symptoms will arise. Most commonly, the rods are initially affected. Since rods are largely concentrated in the retina’s outer portion, they are affected by dim light. Therefore, when rods degenerate, a patient’s night and peripheral vision are affected.
On the other hand, the cones are located centrally in the retina and play a role in seeing color and affect sharp central vision. So, when cones degenerate, a patient is less able to perceive color and has a loss of central vision.
With a genetic component to the disease, males are more frequently and adversely affected by the disease when he carries the familial X-linked RP trait. While females can also carry the gene, they are affected less frequently. Patients can have the disease as a result of a genetic mutation where one or both parents carry the gene. When genes mutate, the incorrect instructions are given to the rods or cones, which cause them to either make the wrong protein or the incorrect amount (too little or too much.) Since RP is a progressive disorder, it is common in adolescents and young adults and can lead to many patients being declared legally blind by age 40.
Common symptoms of RP are:
- Night blindness
- Decreased central vision
- Decreased ability to determine color
- Decreased peripheral vision
"He is a very caring Doctor, he will not milk your insurance, he will not give you unnecessary surgery if you don't need it. I will never trust anyone else with my vision"- M.H. / Healthgrades / Aug 17, 2016
"Recently I had an ongoing issue and was passed around to several ophthalmologists via referral. Finally I ended up in Dr. Sullivan's hands. I will say several women I work with had strongly recommended him, and advised me (combined with having been to an ophthalmology appointment 3 times already in a one month span) that I would wait. The receptionist who confirmed my appointment also reminded me "you can expect to be at the appointment up to 4 hours" so it seems my expectations were a little different than some others. When I finally did get to see Doctor Sullivan (an hour and a half or so after my appointment time) he made an extremely scary situation so much better. He has amazing bedside manner and his delivery is understanding. I was really emotional and he assured me he was confident in his diagnosis and resolution. I left the appointment feeling 100 times better & completely happy I ended up in Dr. Sullivan's hands!"- W.T. / Yelp / Jul 19, 2018
"The staff is awesome. Friendly and always smiling?"- D.B. / Facebook / Jun 21, 2018
"Dr Sullivan was awesome !! I took my sister and he was on top of it right away!! She has a huge mass behind eye!! I would recommend them highly ????"- S.B. / Facebook / Jun 02, 2018
"Goes above and beyond for patients. Very detail oriented. Works well with other Dr if you have multiple eye issues such as glaucoma. There are long wait times in the office but it is well worth it. Dr. Sullivan is the primary Dr at the office but have had to see Dr Agee and he is great too. Highly recommend this office and doctors."- S.V. / Google / May 27, 2018
Once a patient exhibits any signs of RP or has a family history of the condition, an ophthalmologist can conduct a comprehensive eye exam to make a diagnosis. First, the eyes will be dilated to check the retina for any signs and symptoms of RP. In some cases, your doctor will place electrodes on the clear, front area of the eye (cornea) and around the eye. This is called electroretinogram. It’s painless and is used to measure how cells in the retina respond to light. A visual field test is also used where you’ll stare at a fixed point and gesture when you see an object appear in your side vision.
There’s also genetic testing available to make a determination of the probability of a parent passing the disease on to his or her child.
Treatment and Prognosis
There are several treatment options available for RP. These include:
- Cataract surgery which can help improve vision, especially during the later stages of the disease.
- Corticosteroids to prevent cystoid macular edema, which is a build-up of cyst-like areas of fluid in the central part of the retina, the macula.
- Ciliary neurotrophic factor (CNTF) involves the surgical placement of cells into the eye.
- Stem cell transplantation is where cells are derived from bone marrow or embryonic stem cells and used to replace damaged photoreceptor cells.
Although most patients with RP are legally blind by age 40, getting treatment early can greatly prolong vision and in some cases, prevent blindness altogether. Cataract surgery can improve vision for many patients, whereas medication use can prevent other symptoms and conditions from developing. CNTF has shown that patients can experience a retinal thickening, which can prevent further retinal degeneration. With cell transplantation, there have been promising results where vision has improved in some patients.
Patients need to be realistic with their prognosis since outcomes vary greatly among patients. Furthermore, many methods are just being studied and have only been used on small groups of patients. Their long-term effects aren’t yet fully understood.
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Treat RP Today
There have been great strides in the treatment of retinitis pigmentosa and our office would love to share them with you. Our goal is to get you diagnosed and treated as soon as possible to provide you with the best possible prognosis. Our knowledgeable staff would love to hear from you, so give us a call today to schedule an appointment.