Results 1 to 10 of about 48,210 (290)

Approach to inherited retinal diseases

Indian Journal of Ophthalmology, 2022
Inherited retinal diseases (IRDs) are a group of phenotypically diverse disorders with varied genetic mutations, which result in retinal degeneration leading to visual impairment.
Dhanashree Ratra, Sengul Ozdek, Munispriyan Raviselvan, Sailaja Elchuri, Tarun Sharma   +4 more
doaj   +5 more sources

Prime Editing for Inherited Retinal Diseases [PDF]

Frontiers in Genome Editing, 2021
Inherited retinal diseases (IRDs) are chronic, hereditary disorders that lead to progressive degeneration of the retina. Disease etiology originates from a genetic mutation—inherited or de novo—with a majority of IRDs resulting from point mutations ...
Bruna Lopes da Costa, Bruna Lopes da Costa, Sarah R. Levi, Eric Eulau, Yi-Ting Tsai, Yi-Ting Tsai, Peter M. J. Quinn   +6 more
doaj   +3 more sources

Ciliary Defects in Inherited Retinal Diseases [PDF]

Advanced Genetics
Inherited retinal diseases (IRDs) are a heterogeneous group of disorders characterized by progressive photoreceptor degeneration that frequently results in severe vision loss. A major cause of IRDs is attributed to structural or functional defects of the
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
doaj   +2 more sources

Gene-Based Therapeutics for Inherited Retinal Diseases [PDF]

Frontiers in Genetics, 2022
Inherited retinal diseases (IRDs) are a heterogenous group of orphan eye diseases that typically result from monogenic mutations and are considered attractive targets for gene-based therapeutics.
Beau J. Fenner, Beau J. Fenner, Beau J. Fenner, Tien-En Tan, Tien-En Tan, Tien-En Tan, Amutha Veluchamy Barathi, Sai Bo Bo Tun, Sia Wey Yeo, Andrew S. H. Tsai, Andrew S. H. Tsai, Andrew S. H. Tsai, Shu Yen Lee, Shu Yen Lee, Shu Yen Lee, Chui Ming Gemmy Cheung, Chui Ming Gemmy Cheung, Chui Ming Gemmy Cheung, Choi Mun Chan, Choi Mun Chan, Choi Mun Chan, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Jodhbir S. Mehta, Kelvin Y. C. Teo, Kelvin Y. C. Teo, Kelvin Y. C. Teo   +28 more
doaj   +3 more sources

RNA-based therapies in inherited retinal diseases

Therapeutic Advances in Ophthalmology, 2022
Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of genetic eye disorders. There are more than 300 disease entities, and together this group of disorders affects millions of people globally and is a frequent ...
Aniz Girach, Isabelle Audo, David G. Birch, Rachel M. Huckfeldt, Byron L. Lam, Bart P. Leroy, Michel Michaelides, Stephen R. Russell, Juliana M.F. Sallum, Katarina Stingl, Stephen H. Tsang, Paul Yang   +11 more
doaj   +4 more sources

Adaptive optics imaging of inherited retinal diseases. [PDF]

British Journal of Ophthalmology, 2017
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J, Dubra, A, Georgiou, M, Kalitzeos, A, Michaelides, M, Patterson, EJ   +5 more
core   +5 more sources

Burden and characteristics of inherited retinal diseases in China [PDF]

Scientific Reports
Hereditary eye diseases, particularly inherited retinal diseases (IRDs), are major causes of visual impairment and blindness. However, IRDs real-world impact in China remains limited.
Yuqing Lin, Xiyang Dou, Lihong Li, Wenhui Zhou, Wenqing Zhang, Lei Wang, Jason Zihan Wang, Yin Shen   +7 more
doaj   +2 more sources

Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population [PDF]

BMC Medical Genomics
Background Inherited retinal diseases (IRDs) are a group of heterogeneous conditions leading to visual impairment and blindness with over 280 associated genes identified so far.
Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado   +6 more
doaj   +2 more sources

Progress of iPSC-derived retinal organoids in the study of inherited retinal diseases [PDF]

Orphanet Journal of Rare Diseases
Inherited retinal diseases (IRDs) constitute a complex and heterogeneous group of rare disorders characterized by significant genetic diversity. These conditions often lead to the degeneration of photoreceptor cells, resulting in severe visual impairment.
Bochen Liu, Yi Liu, Haiyan Zhang, Jing Huang, Guohua Liu   +4 more
doaj   +2 more sources

Advanced therapeutic approaches for inherited retinal diseases: an umbrella review [PDF]

BMJ Open
Objectives To evaluate the efficacy and safety of advanced therapeutic approaches for inherited retinal disease (IRD) using evidence from systematic reviews and meta-analyses.Design Umbrella review.Data sources We searched for Epistemonikos, PubMed ...
Tiwabwork Tekalign, Kingsley Ekemiri, Esther Daniel, Robin Seemongal-Dass, Chioma Ekemiri, Virginia Victor, Maureen Amobi, Onohomo Adebo   +7 more
doaj   +2 more sources