Diagnostics of inherited retinal degenerations by gene therapy

Shurygina M.F.; Khoteeva A.M.

doi:https://doi.org/10.17116/oftalma2021137041145

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Results of the multicenter study “Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)”. Report 1. Molecular genetic characteristics of inherited retinal pathologies. Russian Annals of Ophthalmology. 2026;(1):70-78

Results of the multicenter study “Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)”. Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies. Russian Annals of Ophthalmology. 2026;(1):79-86

Abstract:

The article presents recent worldwide achievements in the area of diagnosis and treatment of inherited retinal degenerations (IRDs) from the standpoint of ophthalmic genetics. Clinical studies conducted in patients with Leber congenital amaurosis and retinitis pigmentosa caused by biallelic mutations in the RPE65 gene have provided the basis for future genes studies associated with IRDs. The conducted studies highlight the importance of fundamental understanding of function of the gene, timely diagnosis and study of natural history of the disease. Currently, surgical techniques are being improved for the efficient delivery of gene preparations to target cells, as well as the criteria for evaluating treatment outcomes.

Keywords:

Inherited retinal degenerations

Leber congenital amaurosis

retinitis pigmentosa

RPE65 gene

Authors:

Shurygina M.F.

S.N. Fedorov National Medical Research Center «MNTK «Eye Microsurgery»;
Center of Genetics and Reproductive Medicine «Genetico»

Khoteeva A.M.

S.N. Fedorov National Medical Research Center «MNTK «Eye Microsurgery»

Received:

09.06.2021

Accepted:

15.07.2021

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References:

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