Koroideremi. (Turkish)
In: Güncel Retina Dergisi, Jg. 5 (2021-07-01), Heft 3, S. 213-217
academicJournal
Zugriff:
Choroideremia is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. The disease is caused by mutations in the CHM gene which is known to be related to membrane transportation protein in the retina and RPE. Male-affected cases have nyctalopia and progressive reduction in visual acuity. Female-affected cases are carriers. This disease is considered incurable, although new promising treatments have been recently introduced such as gene therapy, stem cells, small molecules, and retinal prosthesis. [ABSTRACT FROM AUTHOR]
Koroideremi koroid, retina pigment epiteli (RPE) ve retinanın progresif dejenerasyonu ile karakterize olan, bir X-geçişli koryoretinal distrofidir. Hastalık retina ve RPE’deki membran transport proteiniyle ilişkili olan CHM genindeki mutasyon sonucu oluşur. Etkilenen erkek vakalarda niktalopi ve görme keskinliğinde progresif azalma olur. Etkilenen kadın olgular taşıyıcıdırlar. Son zamanlarda gen tedavisi, kök hücre tedavisi, küçük moleküller ve retinal protez gibi umut vadeden tedaviler ileri sürülmesine rağmen bu hastalığın tedavisinin olmadığı kabul edilir. [ABSTRACT FROM AUTHOR]
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Titel: |
Koroideremi. (Turkish)
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Autor/in / Beteiligte Person: | Erçalık, N. Yeşim |
Zeitschrift: | Güncel Retina Dergisi, Jg. 5 (2021-07-01), Heft 3, S. 213-217 |
Veröffentlichung: | 2021 |
Medientyp: | academicJournal |
ISSN: | 2548-0693 (print) |
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