State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics DOI Open Access
Marcella Nebbioso, Marco Artico, Magda Gharbiya

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(10), P. 3526 - 3526

Published: May 18, 2025

Inherited retinal dystrophies (IRDs) represent a group of heterogeneous disorders caused by gene mutations primarily affecting photoreceptors. In addition to vision loss, other symptoms may lead visual impairment, such as altered fields, hemeralopia, glare sensitivity, and impaired color vision. These conditions almost always complicate with the onset cataracts, macular edema or atrophy, glaucoma, etc. A brief overview key genes involved in most common well-known IRDs is provided, followed clinical diagnostic implications. The study has seen significant acceleration recent decades, owing advances molecular genetics introduction exome sequencing (WES) genome-wide association studies (GWASs), which have facilitated identification broad spectrum associated IRDs. This led classification five genetic variants, based on criteria American College Medical Genetics Genomics (ACMG), serving guide for interpreting reports. Next, approaches genomic editing therapies research directions regarding artificial intelligence (AI) machine learning (ML) are discussed. paper concludes an examination inevitable ethical regulatory issues, typically driven bodies Food Drug Administration (FDA).

Language: Английский

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics DOI Open Access
Marcella Nebbioso, Marco Artico, Magda Gharbiya

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(10), P. 3526 - 3526

Published: May 18, 2025

Inherited retinal dystrophies (IRDs) represent a group of heterogeneous disorders caused by gene mutations primarily affecting photoreceptors. In addition to vision loss, other symptoms may lead visual impairment, such as altered fields, hemeralopia, glare sensitivity, and impaired color vision. These conditions almost always complicate with the onset cataracts, macular edema or atrophy, glaucoma, etc. A brief overview key genes involved in most common well-known IRDs is provided, followed clinical diagnostic implications. The study has seen significant acceleration recent decades, owing advances molecular genetics introduction exome sequencing (WES) genome-wide association studies (GWASs), which have facilitated identification broad spectrum associated IRDs. This led classification five genetic variants, based on criteria American College Medical Genetics Genomics (ACMG), serving guide for interpreting reports. Next, approaches genomic editing therapies research directions regarding artificial intelligence (AI) machine learning (ML) are discussed. paper concludes an examination inevitable ethical regulatory issues, typically driven bodies Food Drug Administration (FDA).

Language: Английский

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