Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disea...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2017-12-01
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| Series: | Türk Oftalmoloji Dergisi |
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| Online Access: | http://www.oftalmoloji.org/archives/archive-detail/article-preview/recent-advancements-in-gene-therapy-for--hereditary-retinal-dystrophies/16476 |
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| author | Ayşe Öner |
| author_facet | Ayşe Öner |
| author_sort | Ayşe Öner |
| collection | DOAJ |
| description | Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting further levels of complexity. The known disease genes encode proteins involved in retinal cellular structures, phototransduction, the visual cycle, and photoreceptor structure or gene regulation. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been proposed as potentially efficacious therapies. Because of its favorable anatomical and immunological characteristics, the eye has been at the forefront of translational gene therapy. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. Dozens of promising proofs of concept have been obtained in animal models of HRDs and some of them have been relayed to the clinic. The results from the first clinical trials for a congenital form of blindness have generated great interest and have demonstrated the safety and efficacy of intraocular administrations of viral vectors in humans. This review summarizes the clinical development of retinal gene therapy. |
| first_indexed | 2024-04-10T14:48:01Z |
| format | Article |
| id | doaj.art-5ee55d31b89f42eea67ba1dacd301b1c |
| institution | Directory Open Access Journal |
| issn | 1300-0659 2147-2661 |
| language | English |
| last_indexed | 2024-04-10T14:48:01Z |
| publishDate | 2017-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Oftalmoloji Dergisi |
| spelling | doaj.art-5ee55d31b89f42eea67ba1dacd301b1c2023-02-15T16:07:42ZengGalenos YayineviTürk Oftalmoloji Dergisi1300-06592147-26612017-12-0147633834310.4274/tjo.41017Recent Advancements in Gene Therapy for Hereditary Retinal DystrophiesAyşe Öner0Erciyes University Faculty of Medicine, Department of Ophthalmology, Kayseri, TurkeyHereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to complete blindness. The known causative disease genes have a variety of developmental and functional roles, with mutations in more than 120 genes shown to be responsible for the phenotypes. In addition, mutations within the same gene have been shown to cause different disease phenotypes, even amongst affected individuals within the same family, highlighting further levels of complexity. The known disease genes encode proteins involved in retinal cellular structures, phototransduction, the visual cycle, and photoreceptor structure or gene regulation. Significant advancements have been made in understanding the genetic pathogenesis of ocular diseases, and gene replacement and gene silencing have been proposed as potentially efficacious therapies. Because of its favorable anatomical and immunological characteristics, the eye has been at the forefront of translational gene therapy. Recent improvements have been made in the safety and specificity of vector-based ocular gene transfer methods. Dozens of promising proofs of concept have been obtained in animal models of HRDs and some of them have been relayed to the clinic. The results from the first clinical trials for a congenital form of blindness have generated great interest and have demonstrated the safety and efficacy of intraocular administrations of viral vectors in humans. This review summarizes the clinical development of retinal gene therapy.http://www.oftalmoloji.org/archives/archive-detail/article-preview/recent-advancements-in-gene-therapy-for--hereditary-retinal-dystrophies/16476Gene therapyhereditary retinal dystrophiesclinical studies |
| spellingShingle | Ayşe Öner Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies Türk Oftalmoloji Dergisi Gene therapy hereditary retinal dystrophies clinical studies |
| title | Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies |
| title_full | Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies |
| title_fullStr | Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies |
| title_full_unstemmed | Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies |
| title_short | Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies |
| title_sort | recent advancements in gene therapy for hereditary retinal dystrophies |
| topic | Gene therapy hereditary retinal dystrophies clinical studies |
| url | http://www.oftalmoloji.org/archives/archive-detail/article-preview/recent-advancements-in-gene-therapy-for--hereditary-retinal-dystrophies/16476 |
| work_keys_str_mv | AT ayseoner recentadvancementsingenetherapyforhereditaryretinaldystrophies |