Retinitis Pigmentosa

Younger, adolescent patients who experience symptoms that impact their visual acuity or visual field may have a progressive disorder known as retinitis pigmentosa (RP). This rare retinal condition is part of a group of diseases commonly inherited and starts before an individual becomes an adult. RP is caused when the photoreceptor cells of the retina begin to die, causing the degeneration of the retina. While rare, there were roughly around 100,000 cases reported in the U.S. last year. Ocala, FL board-certified retina surgeon Dr. Shalesh Kaushal is dedicated to working with his young patients to help prevent additional vision loss by keeping the rods and cones of the retina healthy. This disease comes in several forms, including Bardet-Biedl syndrome, Usher syndrome, rod-cone disease, Leber’s congenital amaurosis, and Refsum disease.

Research has shown that genetics play a big role in whether an individual develops retinitis pigmentosa. Symptoms will vary depending on whether the rods or cones of the retina are involved. In most cases, the rods are at first affected since they reside on the retina’s outer layer. When the rods begin to degenerate, they are affected by dim light so one of the first symptoms a patient will experience is night and peripheral vision disruption. The cones, on the other hand, play a role in color clarity because they are located in the central portion of the retina. When the cones begin to degenerate, patients will lose color sharpness as well as a loss of central vision.

Since RP is a progressive disorder affecting adolescents, it can, unfortunately, lead to some patients being declared legally blind by age 40. The genetic component to RP disease allows researchers to know more about it. What has been uncovered through thousands of cases is that males are frequently more affected than females. Both male and females can have the disease as a result of a genetic mutation where one or both of the parents carry the gene. When genes mutate, it sends incorrect signals to the rods or cones, which cause them to either make the wrong protein or the incorrect amount (too little or too much).

Dr. Kaushal performs advanced testing to diagnose and confirm if a patient has RP or exhibits signs of it. In most cases, he starts by dilating the eyes for an initial reading. Next, he will place electrodes on the cornea and around the eye, which is known as an electroretinogram. This exam does not cause discomfort for our patients and is effective in measuring how the cells in the retina respond to light. Some patients may also require a visual field test. This helps to assess the visual acuity of a person’s side vision. During this part of the exam, Dr. Kaushal will have the patient stare straight ahead at a fixed object.

Because this disease is known to be genetic, some individuals may choose to have additional testing to find out the probability of a parent passing this retinal condition on to an unborn child.

Dr. Kaushal will determine treatment based on the severity and progression of the disease. There are a number of treatment options available for patients diagnosed with retinitis pigmentosa. To help improve vision, especially for those in the later stage of the disease, cataract surgery can be performed. In addition, corticosteroids help prevent cystoid macular edema. Surgical options that Dr. Kaushal performs include ciliary neurotrophic factor (CNTF), which surgically places cells into the eye. To replace damaged photoreceptor cells, a stem cell transplant may be recommended. The implant involves cells derived from bone marrow or embryonic stem cells.

While there are treatments available, early diagnosis is crucial in preventing vision loss with RP. Many patients with RP are legally blind by age 40, but early intervention can help delay this or prevent vision loss. Because of the nature of this disease where vision loss is probable, patients will work with Dr. Kaushal to understand their prognosis and to help set realistic expectations since outcomes do vary greatly.

Retinitis pigmentosa is a serious retinal disease, but there have been great advancements where treatments are concerned. Dr. Kaushal is passionate about offering the best possible diagnosis and working with each RP patient to treat the condition for the most optimal outcome. Our goal is to  diagnose and treat you as soon as possible. We invite you to contact Comprehensive Retina Consultants today to schedule your appointment and learn more.