Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa
https://doi.org/10.21516/2072-0076-2021-14-1-80-88
Abstract
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.
About the Authors
M. E. Weener
Oftalmic LLC
Russian Federation
Russian Federation
Marianna E. Weener — Cand. of Med. Sci., head.
47/3-3, Leningradsky Prospekt, Moscow, 125167
D. S. Atarshchikov
Central Clinical Hospital under President Affairs
Russian Federation
Russian Federation
Dmitry S. Atarshchikov — Cand. of Med. Sci., ophthalmologist.
15, Marshala Timoshenko st., Moscow, 121359
V. V. Kadyshev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Vitaly V. Kadyshev — Cand. of Med. Sci., ophthalmogeneticist.
1, Moskvorechie st., Moscow, 115522
I. V. Zolnikova
Helmholtz National Medical Research Center of Eye Diseases
Russian Federation
Russian Federation
Inna V. Zolnikova — Dr. of Med. Sci., ophthalmologist, senior research assistant.
14/19, Sadovaya-Chernogryazskaya St., Moscow, 105062
A. M. Demchinsky
Autonomous nonprofit organization Scientific and industrial laboratory Sensor technology for deafblind
Russian Federation
Russian Federation
Andrey M. Demchinsky — Cand. of Med. Sci., chief of medical projects.
2, build. 3, Paveletskaya nab., Moscow, 115114
D. Barh
Center for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB)
India
India
Debmalya Barh — PhD, head.
560032 Nonakuri, Purba Medinipur, West Bengal
L. M. Balashova
International Scientific and Practical Center for the Proliferation of Tissues of Russia
Russian Federation
Russian Federation
Larisa M. Balashova — Dr. of Med. Sci., head.
29/14, Prechistenka St., Moscow, 119034
J. M. Salmasi
Russian N.I. Pirogov National Research Medical University
Russian Federation
Russian Federation
Jean M. Salmasi — Dr. of Med. Sci., professor, head of chair.
1, Ostrovityanova st., Moscow,117513
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For citations:
Weener M.E., Atarshchikov D.S., Kadyshev V.V., Zolnikova I.V., Demchinsky A.M., Barh D., Balashova L.M., Salmasi J.M. Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa. Russian Ophthalmological Journal. 2021;14(1):80-88. (In Russ.) https://doi.org/10.21516/2072-0076-2021-14-1-80-88
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