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Patients present with night vision problems, which progress to a slow loss of all peripheral vision; central vision is spared the longest.

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Presentation on theme: "Patients present with night vision problems, which progress to a slow loss of all peripheral vision; central vision is spared the longest."— Presentation transcript:

1 Patients present with night vision problems, which progress to a slow loss of all peripheral vision; central vision is spared the longest.

2 RP is an Inherited Genetic Disorder and can occur through the dominant recessive and sex linked cells The three patterns of inheritance linked to RP include: Autosomal recessive – both parents are healthy but carry the gene, so each of their children has a 50 per cent chance of inheriting one gene and being a carrier, and a 25 per cent chance of inheriting both genes and developing RP. This is the most common type of RP. Autosomal dominant – in this form of RP, only one parent has the gene, and is usually affected by the disease as well. Each child has a 50 per cent chance of inheriting this gene and developing RP. X-linked recessive – Very uncommon. The defective gene is carried by the mother and is passed to sons only through the X chromosome. Each son has a 50 per cent chance of developing RP. Each affected male patient will give the gene to the next generation, but only to his daughters, who will be healthy carriers. RP was discovered by Doctor Donders in 1857 and received its name after the retinal cells which are the infected gene in the eyes and is what causes this disease RP is located on the X- Chromosome

3 RP is characterized by changes in pigment. Post mortem examination shows that the pigment is caused by the cells from the pigment epithelium budding off and settling within the layers of the neural retina. In late stages of RP a thinning of the retinal blood vessels occurs. This possibly results from the loss of many retinal cells reducing the need for blood. The common end point of this disability is gradual deterioration of the light sensitive cells of the retina. Both rod and cone photoreceptors can possibly be affected. This is based on the genetic defect in the patient Rod photoreceptors are the most common problem to occur with this disorder. Cone dystrophies are distinct and usually presented with other problems

4 The symptoms usually occur during childhood; with impaired night vision, and progressive peripheral vision loss. Most symptoms actually start to become apparent between the ages of 10-30. One type of RP is known as Leber's amaurosis children may become severely vision impaired within the first six months of their life period. Other types of RP only show symptoms late in life. Some cases of RP are first diagnosed following a road accident due to doctors checking patients eyes making it apparent that there is a genetic dysfunction following the accident. Some signs the doctors would see after Checking the eyes would be that the retina shows back or dark brown, star shaped concentration of pigmentation

5 Treatment would be; Vitamin A, Antioxidants, a diet high in long chain omega 3 fatty acids to slow the rate of vision acuity loss among patients receiving Vitamin A palpitate, however, no concrete evidence showing any of these would actually help retain time with holding your eyesight. Prognosis: the disorder would continue to progress, slowly, fortunately complete loss of vision is uncommon. Prevention: Genetic Counselling, containing a future role for gene therapy is a play even though no concrete evidence is insured it will work, seeing as how the experimental phase for surgery is still undergoing in many areas however in Europe there are doctors that have reason to believe that they may have found a surgery but the U.s has not approved to bring it over.

6 Personally my entire family is in a way effected with RP my mom actually has lived with it sense she was 12 years old, My aunt has recently passed away waiting for a cure, and I have a 2 year old cousin who was diagnosed with the X–linked RP at exactly six months of life. My two brothers and I are all carriers for the gene and all have planned to receive pedigrees when we grow older and decide to settle down to know what we are expecting and figure out if who we plan to spend the rest of our lives with are carriers also. It has been proven that many family actually contain the gene of this disability but actually has not shown up within the time of the family living period. My mother is at most legally blind in her left eye and partially blind in her right my mother has good days where she can see things decently but only knows her children as figures. She has to walk whenever she wants to get stuff for us, never herself, but my mother refuses to let anything standing in her way and making her feel incapable of doing anything for her family my any means necessary. My aunt loved doing things active she was on a bowling for the blind team and always babysat for her sisters (my aunts and mom). Many people assume that people who are blind are incapable of doing things such as walking around places and shopping and working but little do they know is that they would be very surprised, because if they didn’t know my mother was blind they would never guess it. I raise money with my sister for and send it in at the end of every month to go to the research for a cure by selling bracelets, and get awareness out there. https://www.facebook.com/RetinisPigmentosaAwareness?ref=hl

7 http://www.patient.co.uk/doctor/retinitis-pigmentosa http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Eye_conditions_retinitis_pigm entosa http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Eye_conditions_retinitis_pigm entosa Mom and Sister My Mom who suffers from the disease


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