• 1990 (Vol.4)
  • 1989 (Vol.3)
  • 1988 (Vol.2)
  • 1987 (Vol.1)

Volume 34 #3

Contents

  1. Variability of the pattern VEP parameters in children without visual impairment and questions of preclinical diagnostics
  2. Three tactics for gene therapy of two congenital retinal diseases. Review
  3. Discrimination of rippled spectra with different ripple densities
  4. Method of iterative tomography reconstruction of cropped sinograms
  5. ANALYSIS OF A STOPPING METHOD FOR TEXT RECOGNITION IN VIDEO STREAM USING AN EXTENDED RESULT MODEL WITH PER-CHARACTER ALTERNATIVES
  6. Recognition of projectively transformed planar figures. XIV. New methods for projectively-invariant description of ovals, using an H-polar curve and dual points
  7. Radial distortion correction for camera submerged under water

Three tactics for gene therapy of two congenital retinal diseases. Review

© 2020 E. M. Maximova, P. V. Maximov

Institute for Information Transmission Problems of the Russian Academy of Sciences 127051 Moscow, Bolshoy Karetny per., 19, Russia

Received 02 Mar 2020

Data on the genetic causes of two congenital retinal diseases – LCA2 and LCA10 (childhood progressive blindness) and modern methods for their treatment are presented. The cause of LCA2 is an interruption of the visual cycle due to a defect in the RPE65 gene, which expresses in retinal pigment epithelium (RPE). “Augmentation gene therapy” – vector delivery of normal RPE65 gene by subretinal administration – has been developed and successfully applied for LCA2 treatment. LCA10 is a ciliopathy caused by a mutation of the CEP290 gene, expressed at the base of the connecting cilium of photoreceptor. For treatment, “antisense” therapy is used that eliminates the intron mutation (“sense” but defective) in the pre-mature mRNA molecule during the synthesis of the CEP290 protein. The “BRILLIANCE” project – the first trial of the genome editing using CRISPR/Cas9 technology direct in the LCA10 patient’s body, announced in Nature for 2020, is mentioned.

Key words: retinal pigment epithelium, RPE65, CEP290, LCA2, LCA10, gene therapy, cilium, genome editing, CRISPR/Cas9, sepofarsen

DOI: 10.31857/S0235009220030051

Cite: Maximova E. M., Maximov P. V. Tri taktiki gennoi terapii dvukh vrozhdennykh zabolevanii setchatki. obzor [Three tactics for gene therapy of two congenital retinal diseases. review]. Sensornye sistemy [Sensory systems]. 2020. V. 34(3). P. 188-200 (in Russian). doi: 10.31857/S0235009220030051

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