Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa
| Autor: | M. E. Weener, D. S. Atarshchikov, V. V. Kadyshev, I. V. Zolnikova, A. M. Demchinsky, D. Barh, L. M. Balashova, J. M. Salmasi |
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| Jazyk: | ruština |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Российский офтальмологический журнал, Vol 14, Iss 1, Pp 80-88 (2021) |
| Druh dokumentu: | article |
| ISSN: | 2072-0076 2587-5760 |
| DOI: | 10.21516/2072-0076-2021-14-1-80-88 |
| Popis: | This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment. |
| Databáze: | Directory of Open Access Journals |
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