Gene Therapy for Inherited Retinal Degeneration

Arbabi, Amirmohsen; Liu, Amelia; Ameri, Hossein

doi:10.1089/jop.2018.0087

Cited by 30Retinal Development and DisordersVirus-based gene therapy researchRNA Interference and Gene Delivery

Gene Therapy for Inherited Retinal Degeneration

Arbabi, Amirmohsen, Liu, Amelia, Ameri, Hossein·2019·Journal of Ocular Pharmacology and Therapeutics

DOI 10.1089/jop.2018.0087

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Abstract

Inherited retinal degeneration (IRD), a group of rare retinal diseases that primarily lead to the progressive loss of retinal photoreceptor cells, can be inherited in all modes of inheritance: autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and mitochondrial. Based on the pattern of inheritance of the dystrophy, retinal gene therapy has 2 main strategies. AR, XL, and AD IRDs with haploinsufficiency can be treated by inserting a functional copy of the gene using either viral or nonviral vectors (gene augmentation). Different types of viral vectors and nonviral vectors are used to transfer plasmid DNA both in vitro and in vivo . AD IRDs with gain-of-function mutations or dominant-negative mutations can be treated by disrupting the mutant allele with (and occasionally without) gene augmentation. This review article aims to provide an overview of ocular gene therapy for treating IRDs using gene augmentation with viral or nonviral vectors or gene disruption through different gene-editing tools, especially with the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated (Cas) system.

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The immune-privilege of the eye is not absolute.
“However, adverse outcomes from some clinical trials and evidence from animal studies have demonstrated that the immune-privilege of the eye is not absolute [20].”
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Authors: Arbabi, A., Liu, A., & Ameri, H.
Affiliations: University of Southern California (US)
Corresponding author: Ameri, Hossein
ORCID: Ameri, Hossein
Venue: Journal of Ocular Pharmacology and Therapeutics
Publisher: SAGE Publications
Published: 2019-03-01
Volume: 35
Issue: 2
Pages: 79-97
ISSN: 1080-7683 (ISSN-L)
1557-7732
DOI: 10.1089/jop.2018.0087
OpenAlex: W2914857800
Cited by: 30
References: 191
Citations by year: 2026: 3 · 2025: 3 · 2024: 3 · 2023: 5 · 2022: 5 · 2021: 3 · 2020: 4 · 2019: 4
FWCI: 0.35
Type: journal article
Language: en
Open access: closed
Licence: journals.sagepub.com/page/policies/text-and-data-mining-license (tdm)
Locations: Journal of Ocular Pharmacology and Therapeutics (publishedVersion)
PubMed (publishedVersion)
Funders: Research to Prevent Blindness
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
Keywords: inherited retinal degeneration, gene therapy, gene augmentation, gene disruption, viral vectors, non-viral vectors, CRISPR gene editing, haploinsufficiency, dominant negative mutation, gain-of-function mutations, photoreceptor loss
MeSH terms: Gene Editing, Genetic Vectors, Humans, Retinal Degeneration, Genetic Therapy, Photoreceptor Cells, Vertebrate, CRISPR-Cas Systems

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Gene Therapy for Inherited Retinal Degeneration

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