Retinitis Pigmentosa | Genetics, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment
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- Опубліковано 5 сер 2024
- Retinitis Pigmentosa | Genetics, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment
Retinitis Pigmentosa is a group of hereditary eye conditions that lead to progressive degeneration of photoreceptor cells known as the rods and cones. Gene mutations are the underlying cause and can manifest as autosomal recessive, autosomal dominant or X-linked conditions. In this lesson, we discuss the pathophysiology as to why degeneration of rods and cones occurs, how this manifests as signs and symptoms, how this condition is diagnosed, and how it is treated.
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JJ
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I hope you all found this lesson helpful! To learn about Retinal Detachment, please check out my new lesson here! ua-cam.com/video/HjpcwHpFBRU/v-deo.html
my 16 yr old son was diagnosed with this when he was 11 I really worry for him as he gets older I hope they are able to find a successful therapies or cure.
My son suffers from the same. Very sad I want him to have a normal life and it breaks my heart. I hope one day they have a cure for this disease
I would highly recommend this channel in learning disease process. This time I don't want to miss any lessons for coding skills. Sir, thank you. This is so helpful to me.
I really hope a cure is found soon, this condition can weigh your mental health down so much and as time goes on I lose more and more hope for a potential cure
It saddens me that I probably won’t be able to drive, I can’t normally go out at night without guiding
It’s generally tiring
At this point I fear going fully blind way lord than death at this point
same bro
Same to me
Try Dr. Sebi method. Everything is reversible. They lied to us about it’s not to keep us slave and a rip us off. Try going natural 💯, it won’t cost to try.
Since we go blind slowly, you will be surprised at your ability to adapt and compensate. It is not a grand party, but the journey is tolerable. Driving was extremely difficult to stop, but now we have Uber and Lyft to get us places and online grocery shopping with home delivery.
72 yrs old. Practiced Anesthesia for 30+ yrs. I had to retire at age 50 with the loss of my Driver's License. I am down to less than 2 degrees of vision. Live alone and care for myself. It is doable but you have to prepare as you lose vision. Divorced age 50yr, wife chose to start an affair and emptied my retirement and bank accounts with the help of her Accountant boyfriend. So, i started all over financially devastated but thrilled to be rid of her.
Acceptance is an ongoing process. because just when you have adjusted, you lose more vision and have to readapt. But, you have to not feel sorry for yourself and keep adapting.
Thank you whole-heartedly! Beginning a research paper on this, and this was just the right amount of information to get me started diving into reviews :)
Love the detail and clear narration. Similar videos only give a brief summary.
I'm 50 years old I have RP really bad.. my cataracts were getting bad so I had to go to a new eye doctor.
The most frustrating part they had no idea how to deal with me they've never had somebody with eyes like mine come in 🤣🤣 it was a very very frustrating experience explain everything to five different eye doctors ten different eye doctor assistance that have no clue about our RP.. most eye doctors are like a cattle vall does eye doctors really don't give two craps about you or trying to help .. just healthcare in general is like this now a days .. they just see you as a dollar sign
Thank you for this very informative video.
Dr. JJ does a good job with his videos and is to be commended.
Regarding why the Cone Photoreceptors die off after the Rods. The Rods secrete a (Rod Derived Cone Viability Factor) that protects the Cones from Apoptosis, cell death. As stated by Dr. JJ, Cones provide Color recognition. But also the central cones provide fine movement recognition and fine focus. Fortunately because the cones make up almost all of the Macula/Fovea, They allow most RP Pts. to have somewhat preserved functional central vision even when the visual field is narrowed to 5 degrees (normal 180 degrees).
Again, I would like to thank Dr. JJ for his many excellent and well done videos. I have recommended them to patients.
Very acurate and very helpful thank you! ❤️🌸
Great Video as always 👍🏻👍🏻
Thank you! My father and two of his siblings have RP and I was convinced I had it until my parents finally took me to get tested at the NIH when I was 17. i didn't have it, just really anxious I guess. My sister doesn't have it either but one of my first cousins does.
My boyfriend has RP and This helps me understand it more thank you
Very helpful thanks for your ideas
Nice work
Please make a video on gastric outlet obstruction.
Still no treatment 😪.29 years waiting for treatment.i m tired and my eyes are tired too 😔.
I got diagnosed last year and was told some therapies are coming in 10-15 years.
I can't help but be doubtful...
@@KinGizzard I m born whit r.p. learn how to live with it,but still sometimes is hard.
Still driving car,on job driving forklift and just got my motorcycle learner licence.i don't let r.p.stop me in some thinks wich I like and wanna do.
Hope is all what we have.
We have to stay strong 💪
🙏👍🍻
Hope is all what we have.
@@alenbole8633 what do u think about this new smart glasses that pops out in the market. do u think it will help us? because we know that normal glasses won't work for us specially at night
@@junerieellano8429 wi h new glasses haven hear anything.can you post link.
Good think is electric smart cars, like tesla,wich can drive us early morning ing or evenings.hope for 10,q5 years will be more affordable.
My partner has Tulp1 RP. And I have SO many questions. I found this video by chance. And he's looking at treatments to help at least stabilize it. And All I can find is Tulp1 is referred to as LCA15. He has rp14. And the only treatment I can find is gene therapy for RPE65. Are they all co-related? And would any form of treatment help him in any way shape or form? I'm honestly not expecting any answer but lord I would a dumbed down answer/guidance. I have learned so much about this disease
Loved it
does anyone has floater bc of this ? .......
I started to have floaters in my both eyes. then few months later, I was diagnosed with RP and I start to have flashlights in my eyes during sunlight and at night......rn I have floaters and the symptoms of flashlight or something in my daily life ....I can't use computer for a long time...it makes my eyes so uncomfortable and I even quit my job bc of this....God I'm only 22
Same
How are you and your vision ?
I have RP, but only in my left eye. My right eye is not affected at all. Great video!
Get a second opinion
@@ginarossi7825 I’ve been to a few optometrists they all say the same thing.
Wish it was like that for me too :/
We are same
may i know what is the cause.
injury or genetics.
Im just diagnose yesterday and i cried alot i have son im scared for him 😭😭😭
thank you so much
can you provide us with some pdf files plz
My dad and uncle have RP :)
Hello , I am from india,??? I am also a patient of RP , so what can I do now???
Ju lutem a .mundesi ne gjuhen shqipe me me tregue me gjeresisht pèr ket semundje kam burrin me ket semundje
My dad and his sister and grandpa have this. His sister has it worse but he is still legally blind, field of vision has been diminished from 180* to 20*. It sad
Thanks for a great video. Just one comment, I think you mean subcapsular cataracts not subscapular cataract?
I was thinking the same...it should be subcapsular cataract.
@@askask7468 Specifically "posterior sub-capsular cataracts."
My daughter has it. Related to the t8993g NARP/Leigh’s
My dad had this along with cataracts. But he seemed fine for a very long time. He was 64 when he passed away and he still had his vision, just some trouble at night and loss of peripheral vision. Wish Crypr was used for this, I'll look up studies.
what do u think about this new smart glasses that pops out in the market. do u think it will help us? because we know that normal glasses won't work for us specially at night
Glasses usually address focus deficiets. RP is a retinal disease due to loss of rods and cones.
I have retinitis pigmentosa it started really showing up around 30 I’m 45 now I’ve lost around 30 % of my peripheral vision on the around my eyes.
I am 36 now and am diagnosed with RP in my 20s. I do not seem to have night blindness which is one of the first symptoms, but I do noticed that my peripheral vision is not so good. May I know what your experience is in term of night vision and how different is your vision from being 30 and now. Thank you!
can you still drive?
Same here,i cant go out at night,
I’m at my 20s and I’m just diagnosed with RP this year so…it will rapidly change in the next ten years ?! really ?!
Your last sentence in the narrative, ". It is actually a better prognosis in the autosomal dominant inherited retinitis pigmentosa" seems incorrect? A slip of the tongue, or I missed something?
I was born with X-linked RP. I am 42 years old now. I don’t think there’s going to be anything to treat this awful disease in my lifetime.
Why d prognosis is better for AD linked RP and poor for xlinked
Arrrrrg! I get so frusterated everyday, every time i loose something that is right in front of me, hit my head, walk into people and things, And my drivers license expired. Not that i drive, its the reality of how much RP sucks and is trying to ruin me
I understand I have it to. I just retired from teaching/coaching and it’s getting worse. Is there any support groups you know of just feel like I’m doing this all alone
sir namaskar How to make Bionic Eye for Retinitis Pigmentosa ? Please give me Information from nepal
Kuba-Therapie!
Havanna!
Next video on T B
About some point in the future, stem cell treatment may help to regenerate those lost rod and cone cells to regain vision.
That treatment is far off in the future. At present the emphysis is on Adeno-Associated Virus to carry the corrected gene segment into the eye to hopefully be incorporated into the cell using CRSPR-Cas 9, to then allow the correct vision proteins to be manufactured. At this time there is only one commercially approved AAV gene segment treatment. It is for Leber's Congenital Amaurosis type 2. LCA2 makes up a very small segment of RP patients.
I am suffering from this disease 😭😭😭
Me also
@S A musix same here its hard to go out at night.
RP friends , please take a DNA test to identify which gene is mutated that lead to RP. Gene therapy helps the rpe65 gene not others.
Good Day
Hi Rishi Raj! Same to you :) Hope all is well!
得了这个病还不如瞎了，真的想死😭不能像正常人一样生活，白天外出都很困难，视野太窄即使看得见走路也要小心翼翼的，上学常常因为这个而被别人误解，为什么😭
O god anybody help me to come over from this disease i really tired😭😭😭😭😭😭😭😭😭
PLEASE READ!!!
I was diagnosed last week with RP and honestly never heard of it before in my life before then. Obviously pretty devastated by the news but seems to be moving at a very slow pace. I’ve done so much research and all I keep seeing is there is no cure and everyone asking for help. So this is the point of this post. I live here in NYC and I was referred to Colombia University where they have just very very recently started treatments for this . Nobody really knows about it and apparently the only place in the world right now. They have 7 doctors all together . 2 out of the 7 specialize just in genetic testing but the other 5 work with everybody. I have a appointment with them at the end of the month so right now I have no idea about what they do or test. But I’m hopeful and I think this is a huge break for us . Please comment or ask any questions . I want to help as many people with it as I can because I was blessed enough to be in the same city but I know everybody is not the fortunate ! I will also keep updates and going to start making videos with my journey !
Can I stay updated with you I’ve been diagnosed with This and I have terrible
Anxiety and would love to connect with you
@@Islandman776 yes of course you can !
How can I stay in contact with you ? Any contact info
Please
What's the update on it??
I need this RN!!!
@@hassankhan447I’m sorry man I never saw this reply but if you send me your info I will text or call you
Who's here after knowing bolera's eye problem
Cool i lost a 1 in 4 , this is why i dont gamble
this made me laugh
Viruses don't 👇
Exist.
Look up virologist Stefan Lanka
Can they prevent the offspring from getting this condition with gen therapy or something or not?
Sorry, no not at this time.