Transcript
Page 1: Retinitis  Pigmentosa

Retinitis Pigmentosa

SPE516Learning Activity 2

Sharla Rosenstein, Vickie Korenek, Leaundra Ottmo, Lenon Phillips, Pam

Thomas, Patty Boyd

Region 10

Page 2: Retinitis  Pigmentosa

Retinitis Pigmentosa

Retinitis 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.

Page 3: Retinitis  Pigmentosa

Symptoms

Retinitis 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.

Page 4: Retinitis  Pigmentosa

Sight of a person with regular vision.

Sight of a person with Retinitis Pigmentosa.

Page 5: Retinitis  Pigmentosa

Effects on the Visual System• Tunnel 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 brain’s ability to

control alignment of the eyes.• Cataracts• Decreased 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 Usher’s syndrome.

Page 6: Retinitis  Pigmentosa

Tests Used For Diagnosis• Acuity 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.

Page 7: Retinitis  Pigmentosa

Visual Aides

• Gottlieb 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.

Page 8: Retinitis  Pigmentosa

Medications That Could Slow the Progression of RP

• Vitamin 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 degeneration

Page 9: Retinitis  Pigmentosa

Medications with Adverse Effects on RP

• Isotretinoin (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

Page 10: Retinitis  Pigmentosa
Page 11: Retinitis  Pigmentosa

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..

Page 12: Retinitis  Pigmentosa

Available Treatments

Retinal 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.

Page 13: Retinitis  Pigmentosa

(Retinal Implant Research Group, 2010)

Page 14: Retinitis  Pigmentosa

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.

Page 15: Retinitis  Pigmentosa

Related Diseases

• Usher Syndrome• Bardet-Biedl (Laurence-Moon) syndrome• rod-cone dystrophy• Choroideremia• gyrate-atrophy• Leber congenital amaurosis• Stargardt's disease

Page 16: Retinitis  Pigmentosa

References• About 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#ixzz1QR5LqgQs

• David 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-treatment

• Eye 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=67

• Retinal 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.pdf

• Richard 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.htm

Page 17: Retinitis  Pigmentosa

On 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 30’s at this time. As he is being interviewed,

Jason tells the correspondent he cannot see the correspondent’s face. He could see the correspondent’s 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 Study

Page 18: Retinitis  Pigmentosa

Doctors 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 isn’t 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.

Page 19: Retinitis  Pigmentosa

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 Jason’s music. It is very good. He is

blessed.

Page 20: Retinitis  Pigmentosa

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 doesn’t 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 doesn’t walk into things or fall down steps, or even fall off the stage.

Case Study Update

Page 21: Retinitis  Pigmentosa

The 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.

Page 22: Retinitis  Pigmentosa

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.

Page 23: Retinitis  Pigmentosa

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 drastically and so quickly, everything is getting smaller; iPhones , Androids, Blackberry’s, even news print has gotten smaller. He feels everybody, at some point, may develop some sort of vision problem.  He feels researchers may want to get on top of this because the corporations responsible wont want people to stop buying their products.  He states “maybe the corporations will strike a deal with researchers so eventually blindness may become a thing of the past”.

His music career is doing very well.  He has been playing music for a living since 1992. He performs six nights a week right now. He is starting to record his third CD.

  http://www2.wptv.com/dpp/news/region_s_palm_beach_county/boynton_beach/Local-musician-losing-his-eyesight-to-R.P

Page 25: Retinitis  Pigmentosa
Page 26: Retinitis  Pigmentosa
Page 27: Retinitis  Pigmentosa

AMERICAN FOUNDATION FOR THE BLIND Southwest Regional Center 11030 Ables Lane Dallas, TX 75229 214-352-7222 1-800-232-5463 www.afb.org   DARS DIVISION FOR BLIND SERVICES 6500 Greenville Avenue, Suite 250 Dallas, TX 75206 1-800-628-5115 www.dars.state.tx.us   Fort Worth

Our Special Children for parents of children with developmental delays, meets the second Saturday of every month from 9:30 - 11:30 a.m. at the Cooks Children's Medical Center. Contact: Emma Bell at (817) 265-6009.

Resources / Support Groups

Page 28: Retinitis  Pigmentosa

National  National Parent to Parent Support and Information System

PO Box 907 Blue Ridge, GA 30513 1-800-651-1151 (voice/TTY) (706) 632-8822 (voice/TTY) (706) 632-8830 (fax) http://www.nppsis.org

  National Organization of Parents of Blind Children

1800 Johnson St. Baltimore, MD 21230 (410) 659-9314 (voice) (612) 696-1975 (BBS) (410) 685-5653 (fax) http://www.nfb.org

Page 29: Retinitis  Pigmentosa

STATE / REGIONAL Deaf-Blind Multihandicapped Association of Texas

(DBMAT) 815 High School Dr. Seagoville, TX 75159 (214) 287-1904

Texas Department of Assistive and Rehabilitative Services (formerly known as Texas Commision for the Blind) & Visually Impaired Children's Program 4800 North Lamar Austin, Texas 78756 1-800-252-5204 (512) 459-2549

  http://www.dailystrength.org/c/Retinitis_Pigmentosa/for

um/12469034-im-new-and   http://www.mdjunction.com/forums/retinitis-pigmentos

a-discussions/introductions-personal-stories/1551660-ssd

Page 31: Retinitis  Pigmentosa

Electronic locators with Braille touch pads

Page 32: Retinitis  Pigmentosa

Ocular Motility Test

Page 33: Retinitis  Pigmentosa

Visual field testRefraction test

Page 34: Retinitis  Pigmentosa

The following is a list of materials and tools that can be helpful to students who are visually impaired:

Low vision exams Refraction (asses vision and whether glasses are needed) Visual Field (asses peripheral vision) Ocular motility (asses eye movement)

Tools that assist with distance recognition (These items can be strategically placed to help identify

important locations and/or materials) Wind Chimes Metronomes Electronic locators

Reading aides Large print books Computer –based text magnifiers Desk lamps Audio books

Page 36: Retinitis  Pigmentosa

Retinitis Pigmentosa

This is a rare, inherited disease in which the light-sensitive retina of the eye slowly and progressively degenerates. The degeneration of the retina, eventually, causes blindness. Retinitis pigmentosa occurs in about 1 of every 4,000 people in the United States.

Visual field testing is usually conducted, during or after a routine eye exam, when retinitis pigmentosa is suspected. This is done in order to determine whether there is and the severity of the impact on peripheral vision. Other specialized tests may be needed to determine whether there is a loss of night or color vision.

Page 37: Retinitis  Pigmentosa

Symptoms Symptoms of retinitis pigmentosa usually occur in early childhood. Both

eyes are typically affected as the light-sensing cells that are responsible for vision in dim light (rods) gradually deteriorate. When this occurs night vision becomes more difficult.

During later stages of retinitis pigmentosa, only a small area of central vision and slight peripheral vision remains.

The vision loss and/or the rate that it progresses of a person with retinitis pigmentosa is usually unpredictable. The consumer’s eye doctor will usually monitor the health of the consumer’s retinal cells and administer tests to determine the his/her level of vision.

Causes The causes of retinitis pigmentosa are relatively unknown. The eye disease

is genetic and passed along through both dominant and recessive traits.

Page 38: Retinitis  Pigmentosa

Treatments Currently there is no cure for retinitis pigmentosa. But several companies are developing retinal implants and other

innovative treatments that are showing promise in providing or preserving some degree of usable sight for people affected by RP. The potential treatments include:

1. Argus II Retinal Prosthesis System. Second Sight Medical Products (Sylmar, Calif.) is developing the Argus II Retinal Prosthesis System for patients blinded by retinitis pigmentosa and other degenerative retinal diseases.

The Argus II system consists of a tiny video camera that is built in to a special pair of eyeglasses. The camera is connected to a small, wireless device worn by the patient, which coverts the video input to electronic signals that are transmitted wirelessly to the implant in the eye. The implant uses this information to stimulate remaining healthy cells in the retina and transmits it by the optic nerve to the brain, where it is perceived as patterns of light. The patient learns to interpret these patterns so he or she can distinguish the outlines of objects. The cost of the system is approximately $100,000, and may be covered by medical insurance. The Second Sight is planning to submit the Argus II system for FDA review in the second half of 2011 and hopes to obtain approval to market the product in the United States in 2012.

2. Retina Implant AG. A microchip implanted into the eye absorbs light signals; transforms them into electrical impulses; amplifies them; and transmits them through the eye's optic nerve to the brain. Estimated the cost of the company's device would be about $200,000.

3. Electrical Stimulation Therapy. For patients with early and intermediate-stage RP, electrical stimulation therapy (EST) of the eye may help preserve vision that otherwise would be lost to the disease, according to representatives of Okuvision, a German medical device company founded by Retina Implant AG, at the 2011 ARVO meeting.

In a clinical trial of 24 patients with early or mid-stage retinitis pigmentosa that began on 2007, eyes that received small amounts of electrical current delivered to the retina via a tiny electrode showed a significant improvement in field of vision, compared with eyes that did not receive the stimulation. According to the researchers, the study suggests controlled electrical stimulation of the retina releases growth factors which may delay degeneration of the retina from RP.

4. Adaptive Therapy and Low Vision Devices Early intervention with occupational therapy may be helpful to manage life changes caused by RP, because it's easier to

adjust to declining vision in earlier stages of vision loss. Individuals with retinitis pigmentosa also might consider use of

low vision devices that can help magnify and illuminate objects in home and work spaces.

Other treatments. Other possible treatments for RP that are being

Page 39: Retinitis  Pigmentosa

Link to Prezi.com presentation

http://prezi.com/fopv2gwghaw_/retinitis-pigmentosa/


Top Related