Treatment of Retinitis Pigmentosa

dc.contributor.advisorPorszász, Róbert
dc.contributor.advisordeptÁltalános Orvostudományi Kar::Farmakológiai és Farmakoterápiai Intézet
dc.contributor.authorKadhim Mejbel, Ali
dc.contributor.departmentDE--Általános Orvostudományi Kar
dc.contributor.opponentSzentmiklósi, József
dc.contributor.opponentHalasi, Barbara Dóra
dc.contributor.opponentdeptÁltalános Orvostudományi Kar::Farmakológiai és Farmakoterápiai Intézet
dc.contributor.opponentdeptÁltalános Orvostudományi Kar::Igazságügyi Orvostani Intézet
dc.date.accessioned2025-06-02T11:11:03Z
dc.date.available2025-06-02T11:11:03Z
dc.date.created2024-08-24
dc.description.abstractRetinitis pigmentosa is a neurodegenerative disease affecting the eye comprised of group of inherited retinal diseases. The main pathology seen is the loss of rod photoreceptor cells followed by loss of cons photoreceptor cell. Night vision loss is the first symptom of retinitis pigmentosa which will eventually progress to central visual field loss in concentric fashion. Retinitis pigmentosa is a genetically heterogenous disease therefore many genes are shown to affect the photoreceptor cells. Furthermore, the apoptic cell signaling seems to be the pathophysiological mechanism being in the background of the disease. Mutations in 3100 genes are shown to have an association with the non-syndromic type of retinitis pigmentosa as well as 1200 gene mutations in the syndromic type of retinitis pigmentosa (associated with non-ophthalmic symptoms). Diagnosis of retinitis pigmentosa can be difficult for ophthalmologists so they are required to do a thorough examination including fundoscopic examination, optical coherence tomography, and electroretinography. Retinitis pigmentosa is not a curable disease however several treatment modalities have been applied and some are still under clinical trials which aims to slow the progression of the disease or in some cases reverse the progression. Current treatments used include vitamin A palmitate supplementation which is known to be essential in the photo transduction process as well as treatments using Hyperbaric oxygen aiming to increase the oxygen delivery to the photoreceptor layer in the retina. Furthermore, stem cell therapy has shown to be effective in the improvement of the patient's vision however safety concerns is still a challenge. Further treatment modalities are being developed including optogenetics and chemical photoswitches molecules which induce visual stimulation on a modified photoreceptor cells thereby utilizing light sources. Moreover, retinal prosthesis can also be used in the treatment of the disease as it is shown to be effective in restoring vision. Lastly, gene augmentation therapy, CRISPR/CAS-9 and antisense oligonucleotide therapy is a very effective modalities of treatment as it deals with the root pathological cause of the disease. However, above mentioned treatment modalities are still under development and research as it has shown that there is still limitations and complications associated with them.
dc.description.courseáltalános orvos
dc.description.courselangangol
dc.description.degreeegységes, osztatlan
dc.format.extent30
dc.identifier.urihttps://hdl.handle.net/2437/390681
dc.language.isoen
dc.rights.infoHozzáférhető a 2022 decemberi felsőoktatási törvénymódosítás értelmében.
dc.subjectTreatment
dc.subjectRetinitis
dc.subjectPigmentosa
dc.subject.dspaceMedicine
dc.titleTreatment of Retinitis Pigmentosa
Fájlok
Eredeti köteg (ORIGINAL bundle)
Megjelenítve 1 - 1 (Összesen 1)
Nincs kép
Név:
thesis Rp .pdf
Méret:
3.48 MB
Formátum:
Adobe Portable Document Format
Leírás:
Engedélyek köteg
Megjelenítve 1 - 1 (Összesen 1)
Nincs kép
Név:
license.txt
Méret:
1.94 KB
Formátum:
Item-specific license agreed upon to submission
Leírás: