AI Article Synopsis
- Inherited retinal diseases (IRDs) are a diverse group of rare conditions that can lead to varying levels of vision impairment and even blindness.
- Current therapeutic options are limited, but the recent approval of the first gene therapy for certain IRDs offers hope for future advancements in treatment.
- The article discusses the challenges posed by the genetic and phenotypic variability of IRDs, the need for accurate phenotypic characterization before genetic testing, and implications for designing clinical trials.
Article Abstract
Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of rare conditions leading to various degrees of visual handicap and to progressive blindness in more severe cases. Besides visual rehabilitation, educational, and socio-professional support, there are currently limited therapeutic options, but the approval of the first gene therapy product for -related IRDs raised hope for therapeutic innovations. Such developments are facing obstacles intrinsic to the disease and the affected tissue including the extreme phenotypic and genetic variability of IRDs and the fine tuning of visual processing through the complex architecture of the postmitotic neural retina. A precise phenotypic characterization is required prior to genetic testing, which now relies on high-throughput sequencing. Their challenges will be discussed within this article as well as their implications in clinical trial design.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11146306 | PMC |
| http://dx.doi.org/10.1101/cshperspect.a041652 | DOI Listing |
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