RETINITIS PIGMENTOSA SIGNS - My Diagnosis and RP Progression

[@smedjamesful]

I've been diagnosed with ushers syndrome, a combination of RP and hearing loss. It has been massively damaging to my quality of life, but I am in the process of getting a guide dog. Your expkanation is vital - not just to those who may be experiencing symptoms but also to your regular folk who have no idea of hhow blindness takes its varying forms.

[@jackccrofootjr7228]

Please Read this Explanation of RP: Don't let any terms discourage you, just follow the main concepts. Vision detection is a long series of proteins that work in concert to effect an electrical signal that is carried away from the nerves in the retina, eventually joining into the Optic Nerve and carried to the brain for interpretation. If any protein is incorrectly coded (the protein recipe is written on our DNA segments), it can cause that pathway to eventually fail at any point along its journey. Inherited Retinal Dystrophies (or Diseases) are a disease of DNA mis-coding (incorrect recipes) being passed from generation to generation through all of the forms of inheritance. There are also spontaneous mis-codings that rarely happen, because of chemicals, radiation, or a mistakes during ongoing DNA replication within the Cell Nucleus, etc. The Retina has several layers. The main layers of importance to understand in RP (IRD) are the "Photoreceptor Layer" and its underlying "Retinal Pigmented Epithelium Layer (RPE)." The Photoreceptor Layer" is made up of Rods (for low light detection in black, grey or white) and the Cones (normally 3 types , red, blue and green) for Color detection. The brain determines the secondary and tertiary colors and hues (ex: purple) by how strongly each of the 3 cone types are stimulated. If for example, the blue and red cones are stimulated the brain interprets it as purple. They are collectively known as PHOTORECEPTORS, it takes one photon of light to stimulate a Rod Receptor and several hundred photons to stimulate a Cone Photoreceptor. Think of the Retina as a bullseye target. with rings. The outer ring is almost entirely Rods, as you move into the central rings Cone are intermingled with the Rods. Until you reach the inner most ring (the Macula as it gives us our greatest Central Vision) which is almost entirely Cones and within the central most point of the Macula there is a pit (the Fovea) of solid Cones with no rods. That is the area of our eye that gives us the best visual acuity (focus) and detection of fine movement. And because the Macula and the Fovea are almost entirely Cones, that is why in IRD's we are still able to have color detection and somewhat preserved vision until they are the last to fail, due to overwhelming failure of the RPE. Oddly enough, the Rods and Cone actually point toward the back of the eye and are in intimate contact with the single cell protective layer (RPE) that wraps around the inside of the eye except in the front near the lens and iris. The (RPE) Retinal Pigmented Epithelium: This one layer thick cell wrap has 6 sided shaped cells (like a bee hive honeycomb) each of the sides has a thick coating of a cellular glue at the inner edge, between each cell that causes a seal or tight barrier of protection between the cells and thus protects the retina from the underlying blood vessel rich layer (the Choroid). This is what forms the "Blood-Retinal Barrier" preventing anything of a certain size, from entering the internal eye. (ex: autoimmune antibodies that would attack and destroy the eye. That is why in some clinical trials of injecting DNA segments or even stem cells, in hopes to repair mis-coded DNA, there is no autoimmune rejection.) The RPE is extremely important in its function to supply nutrition to the Retina and carry away waste from the highly metabolically active rods and cones. The RPE has finger like projections (microvilli) that extend from the surface of the RPE Cell into and around the Rods and Cones to help maintain an environment to feed, protect and remove waste. The RPE also makes certain proteins necessary for vision. ex: the protein that is mis-coded (RPE65 gene) in Leber's Congenital Amaurosis Type 2 [LCA2] (that gene carries the message how to make retinoid isomerohydrolase within the RPE). Each RPE Cell also contains hundreds of granules of a pigment called "Melanin." These pigmented cells help prevent the rods and cones from being overstimulated by the light entering the eye. The Melanin absorbs the excess light and prevents light scatter all of which would "white out" the retina if not dampened by the Melanin in the RPE Cells (like a snow storm white out). The Melanin also absorbs damaging UV light that can can result in free radicals that bind with the intracellular oxygen of the RPE Cells, leading to RPE Cell death. In RP the waste removal done by the RPE can be overwhelmed by the rods & cones dying off and damaging the RPE in the process of trying to remove the resulting waste (in addition to other causes). This damage results in the RPE Cells rupturing and spilling their "Melanin Pigments" into the surrounding Retinal Layers. This is what causes the darkened splotches or spots on the retina that is diagnostic of RP. Also, the Rods secret a "neuroprotective substance" that coats the nearby cones (Rod-derived cone viability factor (RdCVF), so that when the Rods die the nearby cones also die and add to the workload of the RPE to remove the waste leading to more of the RPE Cells rupturing, also spilling their Melanin Pigment. After much of the RPE is destroyed, it is no longer able to keep up nourishing the remaining Rods and Cones so that more and more Rods die, mostly the Rods which are in the highest numbers at the outside circle of the Retina. Since the Rods give us night vision and our peripheral vision. The early symptoms of RP are "loss of night vision" and "narrowed visual field" (tunnel vision). And of course the appearance of the "Melanin staining of the Retina". These are the 3 cardinal symptoms of RP or Inherited Retinal Dystrophies/Diseases (IRD's is the new name, because we now know that RP is not just one disease but each type having a different genetic cause.) There is much more to this process depending on the genetic causes. But, the end result is almost always the same...Photoreceptor Death, RPE destruction (spilling the Visual Pigment Melanin) and increasing night vision loss, lead to increasing overall visual failure with time.

[@bennyrowemusic]

Hey Steve, I feel I walked the same path and now in my mid 40s my vision is so poor I struggle with day light, low light and artificial light. I developed double vision due to eye fatigue and have little left, but I have maintained employment and discovered new ways to do things. Life goes on and we take a new viewpoint. Thanks for your story 👍

[@MrSteve1king]

Hi Steve. I'm from Trinidad and Tobago and I have retinitis pigmentosa as well. I was diagnosed at 21 but I've been living with the symptoms my entire life. You made me laugh when you said about driving for a while even though you think you shouldn't have. Just tonight someone started to curse screaming at me "you blind mc" as I stop due to the lights of the incoming vehicles. It sent me into a depression and I came upon your videos. I'm 32 and I do feel depressed. I'm not financially equipped as I came from a poor household so I'm trying to make it work somehow with my vision as I need my job. Loved your videos. Thank you

[@stevefoxyorktheguidedog4350]

Hi Stephen, I’m glad you can still laugh. And despite site loss you should be able to keep working for as long as you want. There are lots of technological advances these days. Thanks for watching and I’m glad you got something out of the videos. Have a great day! Cheers.

[@sarsa1982]

Thank you for sharing your story. You have given me inspiration and comfort in feeling less alone in my r.p journey. I have been in denial a bit as I have been absolutely terrified of what is to come and not knowing anyone with r.p. Your story resonates with me, alot. Your description of r.p is spot on. And have to say, York, is so, very cute, I love how he is just laying there, right beside you, what a beautiful soul!.

[@stevefoxyorktheguidedog4350]

River Dexindy thanks for watching. I’m glad that you got something out of these videos. I truly believe that peer support is very important. And finding people going through a similar journey really does help. All the best. Cheers!

[@markyurich4081]

Awesome testimony! What an encouragement you are. I’m 65 and was diagnosed 3 years ago, but of course I’ve had RP all my life. Seeing an RP specialist in December for the second time. I’ve noticed a progression over the last 3 years. Not going to let this keep me down. Will definitely get a guide dog when and if it’s time. Blessings!

[@stevefoxyorktheguidedog4350]

Thanks for watching. And all the best with your appointment. One thing when I was first diagnosed. Was that I didn’t feel I fitted into the blind community. But I wasn’t fully sighted either. If you are struggling in certain areas. Don’t be afraid to reach out for help. A little bit of training and education can really make a big difference there are definitely tips and techniques that can help with peripheral vision loss. And getting around at night. Thanks again for watching. And have a great day!

[@shadirizkallah2424]

I love every word u said. Thanks for sharing man. Im 32 i have rp and im struggling every single day :)

[@lorifalwell197]

That you for sharing. My daddy and his siblings all had RP, I have passed it on to my sons one 35 and one 25. They are trying steroid shots with a Dr in Nashville TN. I pray it helps. My daddy never complained about having it and me and my brothers and sister's helped he and my momma as the got older, daddy lived to be 95 and was a very good story teller. My heart goes out to all who live with RP❤❤.

[@jackccrofootjr7228]

Intravitreal steroid injections are usually used to treat the co-existing retinal diseases that accompany RP. ex: Macular Edema, capillary overgrowth, and other inflammatory ocular diseases.

[@melaniehankes6665]

Thank you for sharing! Take away- Don't let your internal dialog get the best of you...Everyone should remember that !

[@stevefoxyorktheguidedog4350]

Very true. Hopefully that is a message that can help a few people. Thanks for watching. And have a great day!

[@Dlw031510]

I have retinitis pigmentosa as well so this is very relatable. Thank you for sharing your story!

[@stevefoxyorktheguidedog4350]

David W thanks for watching. I really think it helps to talk about it and share stories. Thanks again for taking the time to have a look. Have a great day!

[@shessassy]

Thanks for sharing your story, I really appreciate it, and your advice and wisdom. I also enjoy seeing York so relaxed in your videos!

[@stevefoxyorktheguidedog4350]

Thanks for watching. I’m glad you appreciate it. Hopefully it will help others. York is very relaxed. Right now he’s snoring. Ha ha. Have a great day!

[@TheSparkysdog]

Thanks for sharing your story Steve (and York) A lot of what you said struck a chord with me. I struggled through school not wanting to be different from everyone around me and did the same during my early working life . I feel Its only later in life when I accepted my condition things then because a lot easier for me, getting my first Guide Dog was truly life changing. Like you sight loss hasn't stopped me doing things I want to do, its just that you have to find different ways to do them sometimes. Take care both 🦮🐾

[@stevefoxyorktheguidedog4350]

Mark Evans it sounds like we have a very similar story. And you have some wise words to share as well. Thanks for your comments. And thanks for watching. Cheers!

[@BlindNeil]

Hi Steve and York . Nice to meet you's

[@stevefoxyorktheguidedog4350]

BlindNeil thanks Neal. And thanks for your sub. Have yourself a great day!

[@jordanmahonytheblindworld8483]

Steve York the guide dog thank you for subscribing to my channel you really gave me help because I’m trying to get over 100 so my channel can go up to the next level and help people thank you and I hope to become friends with you on KZbin

[@stevefoxyorktheguidedog4350]

Jordan mahony The blind world and thank you. It’s great that we can support each other. We are all out there just trying to make a difference. Keep up the good work. Look forward to seeing more of your videos. Have a great day!

[@TheBlindTreasureHunter]

Hi Steve, it’s great to hear from another person with RP. Thanks for sharing your story. Stay safe and keep happy, Shane

[@stevefoxyorktheguidedog4350]

See it my way 1 thanks. I am loving your videos to. I’m even thinking about getting a metal detector. Have a great day!

[@davidowen4802]

Thanks for the vulnerability. Thanks also for the work you're doing with Guide Dogs. Received an envelope this week with a pic of you on it Amanda cried...of course. We're on the 3rd dog now and your videos keep the trainers motivated.

[@stevefoxyorktheguidedog4350]

David Owen i’m happy to do what I can to help guide dogs. I just hope my face on the mail out doesn’t scare too many people away. Ha ha.

[@lisacavendish9460]

Hi Steve I’ve just watched 2 of your episodes! About your RP diagnoses and about dog distractions. I’m in the Guide dog puppy raising program and it’s great to hear things from your perspective. Thanks for sharing.

[@stevefoxyorktheguidedog4350]

Lisa Colburt thanks. I’m really glad you like the videos. And thank you for being a puppy raiser. Without all of the puppy razors where would we be then. Thanks again for watching and have a great day!

[@gillart99]

Thanks! One thing I don’t understand is the distance aspect (seeing only 6m vs. 18, etc). For my father and my brother and me, we have no peripheral vision and severe night blindness but what we CAN SEE, we see perfectly, no matter how far away. So it’s strange to hear that RP took that aspect away for you, but not for us. Best wishes from USA!

[@stevefoxyorktheguidedog4350]

gillart99 Yes. That’s the thing with retinitis pigmentosa. It affects so many people in so many different ways. But it must be great for you to have others so close, that had the same experience. People that you can relate to. It’s still tough to deal with though. All the best. Have a great day. And thanks for watching. Cheers!

[@scottgrimley1278]

I’m still gathering my story around RP in my journey to legally blind and excepting blindness. But, let’s have a laugh shall we? You were driving with RP and so was I until I was 28! Here is a laughable part, I was a machine gunner in the army reserve for two years with no nightvision from 1989 to 1991! Apparently I had a great face for radio but not the voice when I tried it out.

[@stevefoxyorktheguidedog4350]

Wow! That’s scary. It’s amazing what you can do when you are covering up your blindness.

[@mikesullivan007]

Thank you for sharing Steve, maybe we can surf together someday if you can make it to Florida. I'm one block from the beach and haven't surfed in a few years :( SUP is very popular here!

[@stevefoxyorktheguidedog4350]

Mike Sullivan I would love to get over there to join you for a surf. But I don’t think it’s going to happen any time soon. Who knows when we will be able to travel again. Anyway thanks for watching. In the meantime I’ll keep surfing and stand-up paddle boarding here. Have a great day!

[@velvetstaub8443]

1 month ago I lost my vision. suddenly am in a different world. I appreciated your kindness about your family’s reactions. I have a 7 yr old and she is grieving about having a mom that can’t see- can’t read her a bedtime story or do her hair- I can’t walk to the bus stop to pick her up- but I’m trying to focus on what I can do. I think it will work out - I have these tear that just pop up out of nowhere- I’m crying and it’s an odd experience. I’m a positive person and very hopeful- but maybe I need to expect some grieving from time to time.

[@stevefoxyorktheguidedog4350]

Sorry to hear you're going through this. It's a lot to take in and a lot to deal with. If I could give you one piece of advice. It would be to reach out for support. Learn new skills. Learn how to use a cane. Find the local blind societies in your area And find out what services they offer. Your world will open up again when you learn some new skills. Losing your site isn't the end of the world. It's just a different way to live. Wishing you all the best. Steve and York.

[@anandnadar8839]

Did you have any problem in recognising colours at the age of 5? And at what age did you first wore spectacles?

[@anandnadar8839]

Please reply?

[@stevefoxyorktheguidedog4350]

Anand Nadar hi, no I didn’t have any trouble with colours at the age of five. And that is the same age that I got my first pair of glasses. I started school at five and it was my teacher who picked up on it. I will glasses from then on. Thanks for watching the video. Happy to help with any questions. Have a great day!

[@magdamarichal4085]

How can i get a dog ? I have that condition

[@tbxng3146]

I’m 28 and just had a baby and got married. I’m terrified

[@stevefoxyorktheguidedog4350]

I feel for you. If I could give you one piece of advice. It would be to reach out for help. All too often people like me struggle to reach out for help. But it was the best thing I ever did. The more you learn the easier it gets. Wishing you all the best.

[@rubycaskey7638]

i have all of the signs of rp except i also have diplopia which is seeing double in both eyes is that also a sign of rp

[@jackccrofootjr7228]

intermittent diplopia, is noted in some RP pts as their visual fields narrow and bilateral overlapping reduced visual fields have difficulty finding the same objects to center focal point. Thus some of us end up seeing two slightly different fields at the same time.