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Retinitis Pigmentosa. SPE516 Learning Activity 2 Sharla Rosenstein, Vickie Korenek , Leaundra Ottmo , Lenon Phillips, Pam Thomas, Patty Boyd Region 10. Retinitis Pigmentosa. - PowerPoint PPT Presentation

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Retinitis Pigmentosa

Retinitis PigmentosaSPE516Learning Activity 2Sharla Rosenstein, Vickie Korenek, Leaundra Ottmo, Lenon Phillips, Pam Thomas, Patty Boyd

Region 10Retinitis PigmentosaRetinitis pigmentosa is a rare disease in which the retina, specifically the photoreceptor cells called rods, of the eye slowly degenerates, resulting in blindness.

This disease is genetically based and hereditary.

SymptomsRetinitis Pigmentosa, also known as RP, is usually found early in childhood. Beginning symptoms include difficulty seeing at night and a reduction in peripheral vision. This is because the light-sensing cells that are responsible for vision in low light situations are gradually deteriorating. As the disease progresses, only a small area of central vision remains, along with slight peripheral vision.

Sight of a person with regular vision.Sight of a person with Retinitis Pigmentosa.

Effects on the Visual SystemTunnel Vision- similar to the effect of looking through a straw.Night Blindness- rod cells are sensitive to low light levels and these are the first to degenerate.Light and Glare Problems- sunlight can cause a white-out debilitating glare. Double Vision- tunnel vision interferes with the brains ability to control alignment of the eyes.CataractsDecreased Visual Acuity- the macular area may deteriorate causing a loss of central vision.Hearing loss- the combination of RP and hearing loss is referred to as Ushers syndrome.Tests Used For DiagnosisAcuity Tests-measure the accuracy of the central vision at specific distances in specific lighting situations.Color Testing-helps determine the status of cone cells, the retinal cells that interpret color.Visual Field Test-uses a machine to measure how much peripheral vision is available.Dark Adaptation Test-measures how well eyes adjust to changes in lighting. Also helps the doctor better understand the current function of rod cells, the cells responsible for night vision.ERG Test-The ERG, electroretinogram test, records the electrical currents produced by the retina due to a light stimulus. The intensity and speed of the electrical signal becomes reduced as the photoreceptor cells degenerate.Visual AidesGottlieb Visual Awareness System- press on field awareness prisms and reverse telescopes.Increased lighting at night.Clear glasses for nighttime use.Dark plum or amber filters in glasses, often with side shields. Amber tinted glasses even for inside.Magnification devices.CCTVs with contrast set to white letters on black background.

Medications That Could Slow the Progression of RPVitamin A/beta carotene supplements- studies have shown evidence that vitamin supplementation slows the progression of RP.Acetazolamide-orally, helps improve visual function by reducing Macular edema.Calcium channel blockers-have shown benefits in some animal models but not other models.Lutein/zeaxanthin-A National Institutes of Health (NIH) clinical trial is beginning to test the effectiveness of lutein and zeaxanthin to slow age-related macular degenerationMedications with Adverse Effects on RPIsotretinoin (Accutane): A medication used to treat acne has been reported to worsen night vision.Sildenafil (Viagra): A medication that has been shown to cause vision changes. Vitamin E

GeneticsRetinal cells are among the most specialized cells in the human body and depend on a number of unique genes to create vision. A disease-causing mutation in any one of these genes can lead to vision loss. To date, researchers have discovered over 100 genes that can contain mutations leading to RP.RP can be passed to succeeding generations by one of three genetic inheritance patterns autosomal dominant-an affected parent can have both affected and unaffected children, autosomal recessive-unaffected parents can have both affected and unaffected children, X-linked inheritance-only males are affected, while females carry the genetic trait but do not experience serious vision loss..Available TreatmentsRetinal Implant Project- goal of this project is to develop a microelectronic prosthesis to restore some vision. This project is a joint effort of MIT, the Massachusetts Eye and Ear Infirmary, the VA Boston Healthcare System, and the NanoScale Science & Technology Facility at Cornell University.

(Retinal Implant Research Group, 2010)In addition, researchers have identified some of the genes that cause RP. It is now possible, in some families, to perform a test on genetic material from blood and other cells to determine if members of an affected family have one of several RP genes.

Related DiseasesUsher SyndromeBardet-Biedl (Laurence-Moon) syndromerod-cone dystrophyChoroideremiagyrate-atrophyLeber congenital amaurosisStargardt's diseaseReferencesAbout Low Vision & Blindness > Vision Disorders > Retinitis Pigmentosa. (2011). Retrieved July 19, 2011, from Lighthouse International: http://www.lighthouse.org/about-low-vision-blindness/vision-disorders/retinitis-pigmentosa/Bailey, M. H. (2011, May). Retinitis Pigentosa. Retrieved July 17, 2011, from All About Vision: http://www.allaboutvision.com/conditions/retinapigment.htm#ixzz1QR5LqgQsDavid G Telander, M. P. (2009, August 19). Retinitis Pigmentosa Treatment & Management. Retrieved July 19, 2011, from Medscape Reference Drugs, Diseases and Procedures: http://emedicine.medscape.com/article/1227488-treatmentEye Conditions>Retinitis Pigmentosa. (n.d.). Retrieved July 17, 2011, from Foundation Fighting Blindness: http://www.blindness.org/index.php?option=com_content&view=article&id=50&itemid=67Retinal Implant Research Group. (2010). Chapter 29. The Retinal Implant Project RLE> Progress Report 152. Retrieved July 19, 2011, from Research Laboratory of Electronics at MIT: http://www.rle.mit.edu/rleonline/ProgressReports/3677_29_PR152.pdfRichard L. Windsor, O. F., & Laura K. Windsor, O. F. (n.d.). Retinitis Pigmentosa and Usher's Syndrome. Retrieved July 17, 2011, from http://www.lowvision.org: http://www.lowvision.org/retinitis_pigmentosa.htmOn October 26, 2009, WPTV News Channel 5 in West Palm Beach did an interview with Jason Colannino. Jason sings and plays the guitar and performs regularly at local nightclubs. He had plans for a great future as a musician. His plans are coming along nicely. They just took a different turn than he had planned on. Jason is in his 30s at this time. As he is being interviewed, Jason tells the correspondent he cannot see the correspondents face. He could see the correspondents tie and his shirt. He could see most everything around the correspondent. But, if Jason looked right at him, he saw a dark blur. If Jason looked to the side, he could see the correspondent a little better.

Case StudyDoctors diagnosed Jason with RP in 2005 when Jason started having trouble seeing. When he went to the doctor, they took pictures of his eyes and knew something was wrong. Jason was told the retinal tissue lines the back of the eyes and transports the images we see to the brain. So, when the retinal tissue malfunctions, the vision is affected.When Jason performs at area clubs, the audience isnt aware he sees them dark and out of focus. He does not advertise his condition, which has led to some embarrassing moments. Jason talks about how people would come to him after a performance to tell him what a good job he did and how they loved his music. They would put their hand out to shake his hand and he would not see their hand.

Jason has had to make adjustments to his day-to-day life. These adjustments include making the words bigger on his computer screen, making the letters larger on the keyboard, and using a magnifying glass to read. Driving is not an option. Jason feels he has adapted nicely. He is hoping scientist will find a cure. He knows there is a lot of research going on now and that is where he puts his faith. I listened to Jasons music. It is very good. He is blessed.

I talked to Jason by email on July 21, 2011, to get an update on his condition, his feelings, etc.Jason say the main thing that has changed in his life due to RP, is he lost quite a bit of independence. He doesnt drive anymore so he has to rely on other people to get him to his gigs. When he goes to a dimly lit or dark place (movies, restaurants, etc.), he has to be led by his wife or a friend so he doesnt walk into things or fall down steps, or even fall off the stage.

Case Study UpdateThe kind of RP that he was diagnosed with is called "sporadic" RP. It is not hereditary in his case. It just happened to him like being hit by lightning. The doctor thinks it may have been a dormant gene that woke up. The doctor also says that if he has kids, they may not even get RP. So, he is not totally in the dark; he has low vision. He cannot read a newspaper or any kind of print. He can navigate the computer. He just blows up the letters on the screen. He writes bills wearing high powered, magnifying, eyeglasses. He has to read the bills with a hand held magnifier, as well. Most of what he sees is blurry. Eyeglasses do not help.As far as treatments, he has been told by his doctor to keep an eye (so to speak) out for news about research. His doctor seems hopeful that there will be a treatment in his lifetime. Actually, what he does is use Google Alerts to send him RP news every day. He states, in his case, the doctor seems focused on gene therapy rather than stem cells.

He is currently taking 40mg of Lutein daily. Also, his doctor told him to up his dosage of dark green veggies.

His advice on talking with parents/students/individuals about RP is get involved. Learn about RP, stay informed; learn about vision aides. There are many organizations that can supply vision aides for free. Go to seminars, do the research about treatments as well. His personal opinion is, because technology is changing