Results 1 to 10 of about 590 (67)

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   +2 more sources

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

Diagnostics, 2020
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described.
Yasmin Tatour, Tamar Ben-Yosef
doaj   +3 more sources

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   +1 more source

Prime Editing for Inherited Retinal Diseases

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   +1 more source

Gene-Based Therapeutics for Inherited Retinal Diseases

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   +1 more source

Quantification of the early pupillary dilation kinetic to assess rod and cone activity

Scientific Reports, 2021
Rods, cones and melanopsin contribute in various proportions, depending on the stimulus light, to the pupil light response. This study used a first derivative analysis to focus on the quantification of the dynamics of pupillary dilation that immediately ...
Corinne Kostic, Sylvain V. Crippa, Lorette Leon, Christian Hamel, Isabelle Meunier, Aki Kawasaki   +5 more
doaj   +1 more source

Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases

Antioxidants, 2022
Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
doaj   +1 more source

Genetics of Inherited Retinal Diseases in Understudied Populations

Frontiers in Genetics, 2022
Retinitis pigmentosa is one of the major forms of inherited retinal dystrophy transmitted in all Mendelian and non-Mendelian forms of inheritance. It involves the loss of retinal photoreceptor cells with severe loss of vision or blindness within the ...
Chitra Kannabiran, Chitra Kannabiran, Deepika Parameswarappa, Deepika Parameswarappa, Subhadra Jalali, Subhadra Jalali   +5 more
doaj   +1 more source

Metabolism Dysregulation in Retinal Diseases and Related Therapies

Antioxidants, 2022
The human retina, which is part of the central nervous system, has exceptionally high energy demands that requires an efficient metabolism of glucose, lipids, and amino acids.
Yingying Chen, Nathan J. Coorey, Meixia Zhang, Shaoxue Zeng, Michele C. Madigan, Xinyuan Zhang, Mark C. Gillies, Ling Zhu, Ting Zhang   +8 more
doaj   +1 more source

Targeting molecular pathways for the treatment of inherited retinal degeneration

Neural Regeneration Research, 2020
Inherited retinal degeneration is a major cause of incurable blindness characterized by loss of retinal photoreceptor cells. Inherited retinal degeneration is characterized by high genetic and phenotypic heterogeneity with several genes mutated in ...
Meltem Kutluer, Li Huang, Valeria Marigo
doaj   +1 more source