Results 101 to 110 of about 5,408 (199)

Stargardt disease: ABCA4 and beyond

, 2021
294 p.
openaire   +1 more source

Low vision assessment and management in Stargardt disease: diagnostic approach and therapeutic strategies. Case report

Российский офтальмологический журнал
A 19-year-old female presented to the outpatient department with reduced visual acuity and recurrent headaches. Initially recorded as 15 due to an oversight, her age was clarified, and her best-corrected visual acuity was measured at 6/60P logMAR ...
R. Faheem, M. Saad, S. Ullah, M. Noor, I. Nasim   +4 more
doaj   +1 more source

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

BMC Ophthalmology
Background This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants.
Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl   +12 more
doaj   +1 more source

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

Frontiers in Genetics, 2019
Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1).Methods: A total of 153 subjects, comprising 25 families (25 probands and their family members) and 71 sporadic cases, were recruited for ...
Fang-Yuan Hu, Fang-Yuan Hu, Fang-Yuan Hu, Fang-Yuan Hu, Jian-kang Li, Jian-kang Li, Feng-Juan Gao, Feng-Juan Gao, Feng-Juan Gao, Feng-Juan Gao, Yu-He Qi, Yu-He Qi, Yu-He Qi, Yu-He Qi, Ping Xu, Ping Xu, Ping Xu, Ping Xu, Yong-Jin Zhang, Yong-Jin Zhang, Yong-Jin Zhang, Yong-Jin Zhang, Dan-Dan Wang, Dan-Dan Wang, Dan-Dan Wang, Dan-Dan Wang, Lu-Sheng Wang, Wei Li, Wei Li, Min Wang, Min Wang, Min Wang, Min Wang, Fang Chen, Fang Chen, Fang Chen, Si-Mai Shen, Ge-Zhi Xu, Ge-Zhi Xu, Ge-Zhi Xu, Ge-Zhi Xu, Sheng-Hai Zhang, Sheng-Hai Zhang, Sheng-Hai Zhang, Sheng-Hai Zhang, Qing Chang, Qing Chang, Qing Chang, Qing Chang, Ji-Hong Wu, Ji-Hong Wu, Ji-Hong Wu, Ji-Hong Wu   +52 more
doaj   +1 more source

Genotypic Analysis of ABCA4 Coding Sequence in Thai Patients with Stargardt Disease

Siriraj Medical Journal
Objective: To study the mutational spectrum of the ABCA4 gene in Thai patients with Stargardt disease. Materials and Methods: DNA sequencing of all 50 exons of the ABCA4 gene was performed in nine Thai patients with clinically diagnosed Stargardt ...
Chinnavuth Vatanashevanopakorn, Rungtip Soi-ampornkul, Natapat Chaisidhivej, Asavarak Sompohnmanas, Dhanach Dhirachaikulpanich, Nutnicha Tantarungsee, Saranporn Piampradad, Supalert Prakhunhungsit, Nopasak Phasukkijwatana   +8 more
doaj  

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Journal of Ophthalmology, 2018
Aim. To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods.
Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis   +10 more
doaj   +1 more source

Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa

Frontiers in Genetics
IntroductionThe diversity of phenotypes, ranging from inherited retinal dystrophies (such as Stargardt disease 1, cone–rod dystrophy 3, and retinitis pigmentosa 19) to late-onset age-related macular degeneration 2, has been attributed to loss-of-function
Qi Luo, Juan Huang, Lu Shi, Lu Shi, Guanghong Zhang, Linping Xue, Kehu Wu, Xiaoyu Li, Lei Yang, Dujun Li, Liangwei Mao, Jihong Luo   +11 more
doaj   +1 more source

Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies

, 2014
PURPOSE: We describe a particular form of autosomal recessive generalized choriocapillaris dystrophy phenotype associated with ABCA4 mutations.METHODS: A cohort of 30 patients with identified ABCA4 mutations and a distinct phenotype was studied.
Bertelsen, Mette, Rosenberg, Thomas, Larsen, Michael, Duno, Morten, Zernant, Jana, Allikmets, Rando   +5 more
core   +1 more source

Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease

Scientific Reports
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life
Fabiana Sassone, Catherine Estay-Ahumada, Michel J. Roux, Dominique Ciocca, Paola Rossolillo, Marie-Christine Birling, Janet R. Sparrow, Diego Montenegro, David Hicks   +8 more
doaj   +1 more source

Long-term senolytic therapy with Dasatinib and Quercetin alleviates lipofuscin-dependent retinal degeneration in mice

Redox Biology
Dry age-related macular degeneration (AMD) is one of the common blinding eye diseases, with pathological hallmarks of lipofuscin accumulation, neuroretina atrophy and retinal pigment epithelium (RPE) degeneration.
Bo Yang, Kunhuan Yang, Ruitong Xi, Shiying Li, Jingmeng Chen, Yalin Wu   +5 more
doaj   +1 more source