Results 31 to 40 of about 5,408 (199)

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyMonoallelic ABCA4 Mutations: A Phenotype Study [PDF]

, 2015
PurposeTo investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice.MethodsGenotyped parents (n = 26; age 37-64 years) of patients with biallelic ABCA4 ...
Gliem, Martin, Radu, Roxana A, Müller, Philipp L, Jiang, Zhichun, Bolz, Hanno J, Betz, Christian, McGuinness, Myra, Weber, Bernhard HF, MacLaren, Robert E, Issa, Peter Charbel, Finger, Robert P, Holz, Frank G, Mangold, Elisabeth   +12 more
core   +2 more sources

Asymmetric maculopathy with mutations in adenosine triphosphate-binding cassette, sub-family A, member 4 and jagged canonical notch ligand 1 after 30 years of monocular aphakia

Indian Journal of Ophthalmology. Case Reports, 2021
We report an unusual case of asymmetric maculopathy in a patient with a 30-year history of monocular aphakia. An 82-year old man presented with unexplained visual loss in his right eye.
Prem N Patel, Kaylie D Jones, David B Birch, Rafael L Ufret-Vincenty   +3 more
doaj   +1 more source

Characterization of the functional roles of ABCA4 in the pathology of inherited visual disease

, 2021
Biswas-Fiss, EstherBiswas, SubhasisThe retina-specific ABC transporter, ABCA4, is localized in the rod and cone photoreceptor outer segment discs and is essential for the proper functioning of the visual cycle.
Patel, Meera J.
core   +1 more source

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients

Journal of Ophthalmic & Vision Research, 2022
Purpose: Stargardt disease type 1 (STGD1) is a recessively inherited retinal disorder that can cause severe visual impairment. ABCA4 mutations are the usual cause of STGD1.
Ensieh Darbari, Hamid Ahmadieh, Narsis Daftarian, Mozhgan Rezaei Kanavi, Fatemeh Suri, Hamideh Sabbaghi, Elahe Elahi   +6 more
doaj   +1 more source

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

Molecular Therapy: Nucleic Acids, 2022
Stargardt disease is an autosomal recessively inherited retinal disorder commonly caused by pathogenic variants in the ABCA4 gene encoding the ATP-binding cassette subfamily A member 4 (ABCA4) protein.
Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl   +6 more
doaj   +1 more source

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations

Frontiers in Cell and Developmental Biology, 2021
PurposeThe purpose of the study is to describe the genetic and clinical features of 17 patients with ABCA4-related inherited retinal degenerations (IRDs) and define the phenotype–genotype correlations.MethodsIn this multicenter retrospective study, 17 ...
Qing Zhu, Xue Rui, Ya Li, Ya Li, Ya You, Ya You, Xun-Lun Sheng, Bo Lei, Bo Lei   +8 more
doaj   +1 more source

Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease [PDF]

International Journal of Ophthalmology, 2020
AIM: To identify the disease-associated mutations in a Chinese Stargardt disease (STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype correlations.
Xiao-Dan Hao, Ying Liu, Bao-Wei Li, Wei Wu, Xiao-Wen Zhao   +4 more
doaj   +1 more source

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Scientific Reports, 2023
Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar   +16 more
doaj   +1 more source

Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A

Stem Cell Research, 2023
Pathogenic variants in ABCA4 are associated with Stargardt disease (STGD1), an autosomal recessive macular dystrophy characterized by bilateral central vision loss due to a progressive degeneration of retinal cells. An induced pluripotent stem cell (iPSC)
Nuria Suárez-Herrera, Nico Leijsten, Silvia Albert, Nathalie M. Bax, Carel B. Hoyng, Frans P.M. Cremers, Alejandro Garanto, Rob W.J. Collin   +7 more
doaj   +1 more source

Identification of Two Novel Mutations in ABCA4 Gene in a Patient With Stargardt Disease

Acta Medica Iranica, 2023
Herein we investigated mutations in the ABCA4 gene in an Iranian patient with Stargardt disease using whole exome sequencing (WES). We evaluated genetic alterations in a 13-year-old Iranian girl with Stargardt disease and her family using WES.
Masoumeh Mohebi, Matin Heidari, Mansour Heidari   +2 more
doaj   +1 more source