Works matching DE "STARGARDT disease"

Results: 244

Clinical classification of Stargardt disease.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 5, p. 1377, doi. 10.1007/s00417-023-06292-x

By:

Pas, Jeroen A. A. H.;
Dhooge, Patty P. A.;
Hoyng, Carel B.

Publication type:

Article

Inherited retinal disorders: a genotype–phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 7, p. 2003, doi. 10.1007/s00417-022-05955-5

By:

Gopinath, Chitra;
Rompicherla, Ramya;
Mathias, Grace Priyaranjini;
Patil, Rajeshwari;
Poornachandra, B.;
Vinekar, Anand;
Mochi, Thirumalesh B.;
Braganza, Sherine;
Shetty, K. Bhujang;
Kumaramanickavel, Govindasamy;
Ghosh, Anuprita

Publication type:

Article

Choroidal vascularity index in eyes with central macular atrophy secondary to age-related macular degeneration and Stargardt disease.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 5, p. 1525, doi. 10.1007/s00417-021-05337-3

By:

Corbelli, Eleonora;
Sacconi, Riccardo;
Battista, Marco;
Bacherini, Daniela;
Miere, Alexandra;
Borrelli, Enrico;
Costanzo, Eliana;
Vella, Giovanna;
Parravano, Mariacristina;
Ziccardi, Lucia;
Sodi, Andrea;
Rizzo, Stanislao;
Souied, Eric H;
Bandello, Francesco;
Querques, Giuseppe

Publication type:

Article

Reply on comment on "Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography".

Published in:

2021

By:

Reich, Michael;
Lagrèze, Wolf A.

Publication type:

Letter to the Editor

Comment on "Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography".

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 11, p. 3515, doi. 10.1007/s00417-021-05300-2

By:

Panigrahi, Pradeep Kumar

Publication type:

Article

Thinner temporal peripapillary retinal nerve fibre layer in Stargardt disease detected by optical coherence tomography.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 6, p. 1521, doi. 10.1007/s00417-020-04992-2

By:

Reich, Michael;
Lübke, Jan;
Joachimsen, Lutz;
Stifter, Julia;
Küchlin, Sebastian;
Böhringer, Daniel;
Lange, Clemens;
Lagrèze, Wolf A.

Publication type:

Article

The absence of fundus abnormalities in Stargardt disease.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 6, p. 1147, doi. 10.1007/s00417-019-04280-8

By:

Bax, Nathalie M.;
Lambertus, Stanley;
Cremers, Frans P. M.;
Klevering, B. Jeroen;
Hoyng, Carel B.

Publication type:

Article

Impact of segmentation density on spectral domain optical coherence tomography assessment in Stargardt disease.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 3, p. 549, doi. 10.1007/s00417-018-04229-3

By:

Velaga, Swetha Bindu;
Nittala, Muneeswar Gupta;
Jenkins, Dennis;
Melendez, J.;
Ho, Alexander;
Strauss, R. W.;
Scholl, H. P.;
Sadda, SriniVas R.

Publication type:

Article

Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.

Published in:

Ophthalmologica, 2024, v. 247, n. 4, p. 231, doi. 10.1159/000540361

By:

Gregory-Evans, Kevin;
Kolawole, Olubayo U.;
Molday, Robert S.;
Gregory-Evans, Cheryl Y.

Publication type:

Article

Properties of Patient-Reported Outcome Measures in Recessive Stargardt Disease.

Published in:

Ophthalmologica, 2022, v. 245, n. 6, p. 546, doi. 10.1159/000527093

By:

Terheyden, Jan Henrik;
Finger, Robert P.;
Wicharz, Flora;
Herrmann, Philipp;
Holz, Frank G.;
Tufail, Adnan;
Müller, Philipp L.

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00773

By:

Hu, Fang-Yuan;
Li, Jian-kang;
Gao, Feng-Juan;
Qi, Yu-He;
Xu, Ping;
Zhang, Yong-Jin;
Wang, Dan-Dan;
Wang, Lu-Sheng;
Li, Wei;
Wang, Min;
Chen, Fang;
Shen, Si-Mai;
Xu, Ge-Zhi;
Zhang, Sheng-Hai;
Chang, Qing;
Wu, Ji-Hong

Publication type:

Article

Effectiveness of Low Vision Rehabilitation Using Microperimetric Acoustic Biofeedback Training in Patients with Central Scotoma.

Published in:

Current Eye Research, 2021, v. 46, n. 5, p. 731, doi. 10.1080/02713683.2020.1833348

By:

Sahli, Esra;
Altinbay, Deniz;
Bingol Kiziltunc, Pınar;
Idil, Aysun

Publication type:

Article

Reading Performance Improvements in Patients with Central Vision Loss without Age-Related Macular Degeneration after Undergoing Personalized Rehabilitation Training.

Published in:

Current Eye Research, 2017, v. 42, n. 9, p. 1260, doi. 10.1080/02713683.2017.1315140

By:

Coco-Martín, María B.;
López-Miguel, Alberto;
Cuadrado, Rubén;
Mayo-Iscar, Agustín;
Herrero, Azael J.;
Pastor, José C.;
Maldonado, Miguel J.

Publication type:

Article

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele.

Published in:

Genes, 2024, v. 15, n. 12, p. 1503, doi. 10.3390/genes15121503

By:

Maggi, Jordi;
Feil, Silke;
Gloggnitzer, Jiradet;
Maggi, Kevin;
Hanson, James V. M.;
Koller, Samuel;
Gerth-Kahlert, Christina;
Berger, Wolfgang

Publication type:

Article

Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.

Published in:

Genes, 2024, v. 15, n. 6, p. 766, doi. 10.3390/genes15060766

By:

Mihalich, Alessandra;
Cammarata, Gabriella;
Tremolada, Gemma;
Manfredini, Emanuela;
Bianchi Marzoli, Stefania;
Di Blasio, Anna Maria

Publication type:

Article

A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy.

Published in:

Genes, 2023, v. 14, n. 8, p. 1659, doi. 10.3390/genes14081659

By:

Zampatti, Stefania;
Peconi, Cristina;
Calvino, Giulia;
Ferese, Rosangela;
Gambardella, Stefano;
Cascella, Raffaella;
Sebastiani, Jacopo;
Falsini, Benedetto;
Cusumano, Andrea;
Giardina, Emiliano

Publication type:

Article

Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.

Published in:

Genes, 2023, v. 14, n. 7, p. 1394, doi. 10.3390/genes14071394

By:

Sajovic, Jana;
Meglič, Andrej;
Fakin, Ana;
Brecelj, Jelka;
Šuštar Habjan, Maja;
Hawlina, Marko;
Jarc Vidmar, Martina

Publication type:

Article

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Published in:

Genes, 2023, v. 14, n. 2, p. 291, doi. 10.3390/genes14020291

By:

Sajovic, Jana;
Meglič, Andrej;
Volk, Marija;
Maver, Aleš;
Jarc-Vidmar, Martina;
Hawlina, Marko;
Fakin, Ana

Publication type:

Article

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Published in:

Genes, 2023, v. 14, n. 1, p. 191, doi. 10.3390/genes14010191

By:

Mc Clinton, Benjamin;
Corradi, Zelia;
McKibbin, Martin;
Panneman, Daan M.;
Roosing, Susanne;
Boonen, Erica G. M.;
Ali, Manir;
Watson, Christopher M.;
Steel, David H.;
Cremers, Frans P. M.;
Inglehearn, Chris F.;
Hitti-Malin, Rebekkah J.;
Toomes, Carmel

Publication type:

Article

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Published in:

Genes, 2022, v. 13, n. 8, p. 1490, doi. 10.3390/genes13081490

By:

Griffith III, Joseph;
Sioufi, Kareem;
Wilbanks, Laurie;
Magrath, George N.;
Say, Emil A. T.;
Lyons, Michael J.;
Wilkes, Meg;
Pai, Gurpur Shashidhar;
Peterseim, Mae Millicent Winfrey

Publication type:

Article

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Published in:

Genes, 2021, v. 12, n. 8, p. 1269, doi. 10.3390/genes12081269

By:

Song, Fei;
Owczarek-Lipska, Marta;
Ahmels, Tim;
Book, Marius;
Aisenbrey, Sabine;
Menghini, Moreno;
Barthelmes, Daniel;
Schrader, Stefan;
Spital, Georg;
Neidhardt, John

Publication type:

Article

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.

Published in:

Genes, 2021, v. 12, n. 8, p. 1241, doi. 10.3390/genes12081241

By:

Al-Khuzaei, Saoud;
Broadgate, Suzanne;
Foster, Charlotte R.;
Shah, Mital;
Yu, Jing;
Downes, Susan M.;
Halford, Stephanie

Publication type:

Article

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients.

Published in:

Genes, 2021, v. 13, n. 6, p. 812, doi. 10.3390/genes12060812

By:

Buhler, Virginie M.M.;
Berger, Lieselotte;
Schaller, André;
Zinkernagel, Martin S.;
Wolf, Sebastian;
Escher, Pascal

Publication type:

Article

Genotypes Predispose Phenotypes—Clinical Features and Genetic Spectrum of ABCA4 -Associated Retinal Dystrophies.

Published in:

Genes, 2020, v. 11, n. 12, p. 1421, doi. 10.3390/genes11121421

By:

Sung, Yu-Chi;
Yang, Chang-Hao;
Yang, Chung-May;
Lin, Chao-Wen;
Huang, Ding-Siang;
Huang, Yu-Shu;
Hu, Fung-Rong;
Chen, Pei-Lung;
Chen, Ta-Ching

Publication type:

Article

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.

Published in:

Genes, 2020, v. 11, n. 7, p. 773, doi. 10.3390/genes11070773

By:

Coco-Martin, Rosa M.;
Sanchez-Tocino, Hortensia T.;
Desco, Carmen;
Usategui-Martín, Ricardo;
Tellería, Juan J.

Publication type:

Article

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.

Published in:

Genes, 2019, v. 10, n. 6, p. 452, doi. 10.3390/genes10060452

By:

Garanto, Alejandro;
Duijkers, Lonneke;
Tomkiewicz, Tomasz Z.;
Collin, Rob W. J.

Publication type:

Article

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

Published in:

Acta Medica Iranica, 2023, v. 61, n. 6, p. 329

By:

Mohebbi, Masoumeh;
Heidari, Matin;
Heidari, Mansour

Publication type:

Article

Quercetin Alleviates All- Trans -Retinal-Induced Photoreceptor Apoptosis and Retinal Degeneration by Inhibiting the ER Stress-Related PERK Signaling.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 24, p. 13624, doi. 10.3390/ijms252413624

By:

Yang, Bo;
Yang, Kunhuan;
Xi, Ruitong;
Chen, Jingmeng;
Wu, Yalin

Publication type:

Article

Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8859, doi. 10.3390/ijms25168859

By:

Ghenciu, Laura Andreea;
Hațegan, Ovidiu Alin;
Stoicescu, Emil Robert;
Iacob, Roxana;
Șișu, Alina Maria

Publication type:

Article

Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations—An In-Silico Study.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7280, doi. 10.3390/ijms24087280

By:

Cevik, Senem;
Biswas, Subhasis B.;
Biswas-Fiss, Esther E.

Publication type:

Article

Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16161, doi. 10.3390/ijms232416161

By:

Sajovic, Jana;
Meglič, Andrej;
Hawlina, Marko;
Fakin, Ana

Publication type:

Article

Where Are We with RPE Replacement Therapy? A Translational Review from the Ophthalmologist Perspective.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 2, p. 682, doi. 10.3390/ijms23020682

By:

Raimondi, Raffaele;
Zollet, Piero;
De Rosa, Francesco Paolo;
Tsoutsanis, Panagiotis;
Stravalaci, Matteo;
Paulis, Marianna;
Inforzato, Antonio;
Romano, Mario R.

Publication type:

Article

Scaffold-Free Retinal Pigment Epithelium Microtissues Exhibit Increased Release of PEDF.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11317, doi. 10.3390/ijms222111317

By:

Al-Ani, Abdullah;
Toms, Derek;
Sunba, Saud;
Giles, Kayla;
Touahri, Yacine;
Schuurmans, Carol;
Ungrin, Mark

Publication type:

Article

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4621, doi. 10.3390/ijms22094621

By:

Tomkiewicz, Tomasz Z.;
Suárez-Herrera, Nuria;
Cremers, Frans P. M.;
Collin, Rob W. J.;
Garanto, Alejandro;
Maeda, Akiko

Publication type:

Article

Nanocarriers, Progenitor Cells, Combinational Approaches, and New Insights on the Retinal Therapy.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1776, doi. 10.3390/ijms22041776

By:

Pishavar, Elham;
Luo, Hongrong;
Bolander, Johanna;
Atala, Antony;
Ramakrishna, Seeram;
Boatright, Jeffrey H.

Publication type:

Article

Development of 3D Printed Bruch's Membrane-Mimetic Substance for the Maturation of Retinal Pigment Epithelial Cells.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1095, doi. 10.3390/ijms22031095

By:

Kim, Jongmin;
Park, Ju Young;
Kong, Jeong Sik;
Lee, Hyungseok;
Won, Jae Yon;
Cho, Dong Woo

Publication type:

Article

Cell-Type-Specific Complement Profiling in the ABCA4 −/− Mouse Model of Stargardt Disease.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8468, doi. 10.3390/ijms21228468

By:

Jabri, Yassin;
Biber, Josef;
Diaz-Lezama, Nundehui;
Grosche, Antje;
Pauly, Diana

Publication type:

Article

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3430, doi. 10.3390/ijms21103430

By:

Ścieżyńska, Aneta;
Soszyńska, Marta;
Komorowski, Michał;
Podgórska, Anna;
Krześniak, Natalia;
Nogowska, Aleksandra;
Smolińska, Martyna;
Szulborski, Kamil;
Szaflik, Jacek P.;
Noszczyk, Bartłomiej;
Ołdak, Monika;
Malejczyk, Jacek

Publication type:

Article

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5053, doi. 10.3390/ijms20205053

By:

Nassisi, Marco;
Mohand-Saïd, Saddek;
Andrieu, Camille;
Antonio, Aline;
Condroyer, Christel;
Méjécase, Cécile;
Varin, Juliette;
Wohlschlegel, Juliette;
Dhaenens, Claire-Marie;
Sahel, José-Alain;
Zeitz, Christina;
Audo, Isabelle

Publication type:

Article

Scavenging of Retinoid Cation Radicals by Urate, Trolox, and α-, β-, γ-, and δ-Tocopherols.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 11, p. 2799, doi. 10.3390/ijms20112799

By:

Rozanowska, Malgorzata;
Edge, Ruth;
Land, Edward J.;
Navaratnam, Suppiah;
Sarna, Tadeusz;
Truscott, T. George

Publication type:

Article

The Controversial Role of TGF-β in Neovascular Age-Related Macular Degeneration Pathogenesis.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3363, doi. 10.3390/ijms19113363

By:

Tosi, Gian Marco;
Orlandini, Maurizio;
Galvagni, Federico

Publication type:

Article

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2196, doi. 10.3390/ijms19082196

By:

Nassisi, Marco;
Mohand-Saïd, Saddek;
Dhaenens, Claire-Marie;
Boyard, Fiona;
Démontant, Vanessa;
Andrieu, Camille;
Antonio, Aline;
Condroyer, Christel;
Foussard, Marine;
Méjécase, Cécile;
Eandi, Chiara Maria;
Sahel, José-Alain;
Zeitz, Christina;
Audo, Isabelle

Publication type:

Article

UNILATERAL MACULAR OEDEMA IN STARGARDT MACULAR DYSTROPHY - A RARE CASE REPORT.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 297

By:

Mezei, Anca-Maria;
Mihalache, Mihaela;
Damian, Ioana

Publication type:

Article

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

Published in:

Siriraj Medical Journal, 2024, v. 76, n. 10, p. 705, doi. 10.33192/smj.v76i10.268909

By:

Vatanashevanopakorn, Chinnavuth;
Soi-ampornkul, Rungtip;
Chaisidhivej, Natapat;
Sompohnmanas, Asavarak;
Dhirachaikulpanich, Dhanach;
Tantarungsee, Nutnicha;
Piampradad, Saranporn;
Prakhunhungsit, Supalert;
Phasukkijwatana, Nopasak

Publication type:

Article

Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 2, p. 614, doi. 10.3390/jcm14020614

By:

Ambrosio, Lucia;
Perepelkina, Tatiana;
Elhusseiny, Abdelrahman M.;
Fulton, Anne B.;
Gonzalez Monroy, Jose Efren

Publication type:

Article

Novel Therapies for Inherited Retinal Dystrophies.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 23, p. 7358, doi. 10.3390/jcm13237358

By:

Kay, Christine Nichols

Publication type:

Article

Updates on Emerging Interventions for Autosomal Recessive ABCA4 -Associated Stargardt Disease.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 19, p. 6229, doi. 10.3390/jcm12196229

By:

Wang, Liang;
Shah, Serena M.;
Mangwani-Mordani, Simran;
Gregori, Ninel Z.

Publication type:

Article

Evaluation of photoreceptor function in inherited retinal diseases using rod‐ and cone‐enhanced flicker stimuli.

Published in:

Ophthalmic & Physiological Optics, 2021, v. 41, n. 4, p. 874, doi. 10.1111/opo.12799

By:

Hathibelagal, Amithavikram R;
Bharadwaj, Shrikant R;
Jalali, Subhadra;
Subramanian, Ahalya;
Barbur, John L

Publication type:

Article

Low Vision Rehabilitation of a Stargardt-Like Macular Dystrophy Linked to a Novel ELOVL4 Heterozygous Mutation in a Hispanic Family.

Published in:

Optometry & Visual Performance, 2022, v. 10, n. 2, p. 109

By:

Joyce Zhang;
Schmiedecke-Barbieri, Stephanie R.;
Sanchez-Diaz, Patricia C.;
Meyer, Jackelyn

Publication type:

Article

Retinal gene therapy moving closer to clinical reality.

Published in:

2015

By:

Chulay, Jeffrey D.

Publication type:

Editorial