Retinitis Pigmentosa | Genetics, Pathophysiology, Signs & Symptoms, Diagnosis, Treatment

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

**MEDICAL LEGAL DISCLAIMER**: JJ Medicine does not provide medical advice, and the information available on this channel does not offer a diagnosis or advice regarding treatment. Information presented in these lessons is for educational purposes ONLY, and information presented here is not to be used as an alternative to a healthcare professional’s diagnosis and treatment of any person/animal. Only a physician or other licensed healthcare professional are able to determine the requirement for medical assistance to be given to a patient. Please seek the advice of your physician or other licensed healthcare provider if you have any questions regarding a medical condition.

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[leahdelrosario]

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.

[GGS]

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

[tesianata]

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.

[jackccrofootjr]

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.

[hopemosher]

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 :)

[myrag.]

My boyfriend has RP and This helps me understand it more thank you

[cave_hag]

Love the detail and clear narration. Similar videos only give a brief summary.

[Charlie-zjhw]

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

[RBwell]

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.

[flowersfpeace]

I have RP, but only in my left eye. My right eye is not affected at all. Great video!

[iontach]

Thank you for this very informative video.

[alenbole]

Still no treatment 😪.29 years waiting for treatment.i m tired and my eyes are tired too 😔.

[sydnigreenfield]

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

[ayeshatabassum]

Please make a video on gastric outlet obstruction.

[DocRen]

The "subscapular cataracts" made me smile 😅

[nealsplice]

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.

[mommyrheaandbebekyrie]

Im just diagnose yesterday and i cried alot i have son im scared for him 😭😭😭

[faithcondez]

Very acurate and very helpful thank you! ❤️🌸

[jacques]

Thanks for a great video. Just one comment, I think you mean subcapsular cataracts not subscapular cataract?

[obadatime]

thank you so much
can you provide us with some pdf files plz