Results 51 to 60 of about 2,525,884 (192)

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex <italic>ABCA4</italic> Allele from Eastern Africa: Two Case Reports

Case Reports in Ophthalmology
Introduction: Biallelic pathogenic variants in the ABCA4 gene are the leading cause of inherited retinal diseases. Over 1,200 pathogenic or likely pathogenic ABCA4 variants have been reported, resulting in a broad clinical spectrum of ABCA4 ...
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup, Marte Innselset Flydal, Adam P. DeLuca, Jeaneen L. Andorf, Edwin M. Stone, Per Morten Knappskog   +9 more
doaj   +1 more source

Novel variants of ABCA4 in Han Chinese families with Stargardt disease

BMC Medical Genetics, 2020
Background Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1.
Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu   +6 more
doaj   +1 more source

Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration

Cells, 2022
Recessive Stargardt disease (STGD1) is an inherited retinopathy caused by mutations in the ABCA4 gene. The ABCA4 protein is a phospholipid-retinoid flippase in the outer segments of photoreceptors and the internal membranes of retinal pigment epithelial (
Eunice Sze Yin Ng, Nermin Kady, Jane Hu, Arpita Dave, Zhichun Jiang, Jacqueline Pei, Michael B. Gorin, Anna Matynia, Roxana A. Radu   +8 more
doaj   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

The role of multimodal imaging and vision function testing in -related retinopathies and their relevance to future therapeutic interventions

Therapeutic Advances in Ophthalmology, 2021
The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions ...
Saoud Al-Khuzaei, Mital Shah, Charlotte R. Foster, Jing Yu, Suzanne Broadgate, Stephanie Halford, Susan M. Downes   +6 more
doaj   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Mutation identification of ABCA4 gene.

, 2014
Electropherogram analysis of ABCA4 in family 2048 showing the compound heterozygous mutations (c.C2424G and c.G1819A) co-segregated with the phenotype. II1 and II2 patients harbored compound heterozygous c.C2424G and c.G1819A mutations of the ABCA4 gene.
Xianjun Zhu (144118), He Lin (217878), Lulin Huang (256539), Youping Li (111211), Liya Wang (161745), Xiong Zhu (535481), Hui Chen (28597), Fang Hao (535483), Siyu Tao (535480), Zhenglin Yang (24489), Zhili Wang (535482), Yu Zhou (89766)   +11 more
core   +1 more source

Rescue of the Stargardt Disease Phenotype in Abca4 Knockout Mice Through Dietary Modulation of the Vitamin A Receptor RBPR2

FASEB BioAdvances
Mutations in the ABCA4 gene in Stargardt disease (STGD1) cause enhanced accumulation of cytotoxic lipofuscin, manifesting in RPE atrophy and photoreceptor dysfunction.
Rakesh Radhakrishnan, Matthias Leung, Drew Yochim, Heidi Roehrich, Scott W. McPherson, Glenn P. Lobo   +5 more
doaj   +1 more source

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Molecular Genetics & Genomic Medicine, 2020
Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for
Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang‐Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung‐Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton, Fred K. Chen   +15 more
doaj   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source