Results 1 to 10 of about 31,949 (116)

Cone Opsins and Inherited Retinal Disease [PDF]

Cells
Opsins are the light receptors in retinal rod and cone photoreceptor cells that initiate vision in response to a light stimulus. Rhodopsin is the opsin in rods, and the influence of mutations that disrupt its structure and function has been characterized
Maya Tang, Paul S.-H. Park
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Random Allelic Expression in Inherited Retinal Disease Genes [PDF]

Current Issues in Molecular Biology, 2023
Inherited retinal diseases (IRDs) are a significant contributor to visual loss in children and young adults, falling second only to diabetic retinopathy. Understanding the pathogenic mechanisms of IRDs remains paramount.
Collin J. Richards, Jose S. Pulido
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Fundus Autofluorescence in Inherited Retinal Disease: A Review [PDF]

Cells
Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases—particularly inherited retinal diseases (IRDs).
Jin Kyun Oh, Omar Moussa, Byron L. Lam, Jesse D. Sengillo   +3 more
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Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Stem Cell Research, 2021
Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD.
Sang Yoon Moon, Dan Zhang, Shang-Chih Chen, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan   +8 more
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Genetic testing and diagnosis of inherited retinal diseases

Orphanet Journal of Rare Diseases, 2021
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness.
Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon, Karmen Trzupek   +5 more
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Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200

Stem Cell Research, 2021
The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]).
Dan Zhang, Samuel McLenachan, Shang-Chih Chen, Khine Zaw, Yaqin Alziyadat, Xiao Zhang, Tina M. Lamey, Jennifer A. Thompson, Terri L. McLaren, Carla Mellough, John N. De Roach, Fred K. Chen   +11 more
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Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Stem Cell Research, 2020
Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous
Luke Jennings, Dan Zhang, Shang-Chih Chen, Sang Yoon Moon, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Fred K. Chen, Samuel McLenachan   +9 more
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Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence

Ophthalmology Science, 2021
Purpose: To investigate atrophy expansion rate (ER) using ultra-widefield (UWF) fundus autofluorescence (FAF) in Stargardt disease (STGD1). Design: Retrospective, longitudinal study.
Rachael C. Heath Jeffery, MChD, MPH, Jennifer A. Thompson, PhD, Johnny Lo, PhD, Tina M. Lamey, PhD, Terri L. McLaren, BSc, Ian L. McAllister, MD, David A. Mackey, MD, Ian J. Constable, MD, John N. De Roach, PhD, Fred K. Chen, MBBS, PhD   +9 more
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Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

Molecular Therapy: Nucleic Acids, 2023
Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles, Sheila Ruiz-Nogales, Arnau Navinés-Ferrer, Pilar Méndez-Vendrell, Esther Pomares   +4 more
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Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier

Stem Cell Research, 2019
We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p.(Ser402Ter)).
Samuel McLenachan, Dan Zhang, Xiao Zhang, Shang-Chih Chen, Tina Lamey, Jennifer A. Thompson, Terri McLaren, John N. De Roach, Sue Fletcher, Fred K. Chen   +9 more
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