Works matching DE "STARGARDT disease"

Results: 267

Plan for the Future.

Published in:: Braille Monitor, 2025, v. 68, n. 6, p. 369
Publication type:: Article

Stem cell therapy as treatment for Stargardt disease.

Published in:

Therapeutic Advances in Ophthalmology, 2025, p. 1, doi. 10.1177/25158414251320592

By:

Marks, Erica;
Anugu, Adith;
Bisiani, Joseph;
Pentyala, Srinivas

Publication type:

Article

Correlation between Choriocapillaris Density and Retinal Sensitivity in Stargardt Disease.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1432, doi. 10.3390/jcm8091432

By:

Mastropasqua, Rodolfo;
Senatore, Alfonso;
Di Antonio, Luca;
Di Nicola, Marta;
Marchioni, Michele;
Perna, Fabiana;
Amore, Filippo;
Borrelli, Enrico;
De Nicola, Chiara;
Carpineto, Paolo;
Toto, Lisa

Publication type:

Article

Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1388, doi. 10.3390/jcm8091388

By:

Arrigo, Alessandro;
Grazioli, Alessio;
Romano, Francesco;
Aragona, Emanuela;
Bordato, Alessandro;
di Nunzio, Carlo;
Sperti, Andrea;
Bandello, Francesco;
Battaglia Parodi, Maurizio

Publication type:

Article

Progression of Rare Inherited Retinal Dystrophies May Be Monitored by Adaptive Optics Imaging.

Published in:

Life (2075-1729), 2023, v. 13, n. 9, p. 1871, doi. 10.3390/life13091871

By:

Samelska, Katarzyna;
Szaflik, Jacek Paweł;
Śmigielska, Barbara;
Zaleska-Żmijewska, Anna

Publication type:

Article

The Direct Healthcare Cost of Stargardt Disease: A Claims-Based Analysis.

Published in:

Ophthalmic Epidemiology, 2021, v. 28, n. 6, p. 533, doi. 10.1080/09286586.2021.1883675

By:

Aziz, Kanza;
Swenor, Bonnielin K.;
Canner, Joseph K.;
Singh, Mandeep S.

Publication type:

Article

All That Glitters Are Not Flecks: Inflammatory Choroidal Neovascularization in Fundus Flavimaculatus.

Published in:

Ocular Immunology & Inflammation, 2015, v. 23, n. 2, p. 188, doi. 10.3109/09273948.2013.873810

By:

Roy, Rupak;
Kumar, Amitabh;
Ghosh, Shrutakirti;
Lobo, Aneesha;
Agarwal, Pracheer

Publication type:

Article

At-Home Trial of Four Different Head-Mounted Displays in Visual Rehabilitation of People with Stargardt Disease.

Published in:

Clinical Optometry, 2023, v. 15, p. 271, doi. 10.2147/OPTO.S434404

By:

Schmidt, Diana Chabané;
Kjølholm, Christine Dahlgren Bohnsack;
Jordana, Joaquim Torner;
Spange, Vibeke;
Højstrup, Pernille Duelund;
Larsen, Bo Schack;
Kessel, Line

Publication type:

Article

Hereditary Maculopathies.

Published in:

Focal Points, 2013, v. 31, n. 1, p. 1

By:

Kang Zhang;
Bedell, Matthew;
Kozak, Igor;
Husain, Deeba;
Zacks, David N.;
Wiggins Jr., Robert E.

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

Genotype-Specific Lesion Growth Rates in Stargardt Disease.

Published in:

Genes, 2021, v. 12, n. 12, p. 1981, doi. 10.3390/genes12121981

By:

Heath Jeffery, Rachael C.;
Thompson, Jennifer A.;
Lo, Johnny;
Lamey, Tina M.;
McLaren, Terri L.;
McAllister, Ian L.;
Constable, Ian J.;
De Roach, John N.;
Chen, Fred K.

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

Improving personalised genetic counselling for ABCA4-associated retinopathy: Updated recurrence risk estimates.

Published in:

Medizinische Genetik, 2025, v. 37, n. 1, p. 19, doi. 10.1515/medgen-2024-2065

By:

Cornelis PhD, Stéphanie S.;
Cremers PhD, Frans P. M.

Publication type:

Article

Rekindling Vision: Innovative Strategies for Treating Retinal Degeneration.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 9, p. 4078, doi. 10.3390/ijms26094078

By:

Khan, Irfan;
Ramzan, Faiza;
Tayyab, Haroon;
Damji, Karim F.

Publication type:

Article

Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 7, p. 3354, doi. 10.3390/ijms26073354

By:

Liu, Xinyu;
Liu, Zehao;
Cui, Jinli;
Tan, Chen;
Sun, Wenmin;
Lin, Ying

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

Presentation and Clinical Features of Stargardt Disease in a Series of Nigerian Patients.

Published in:

Annals of African Medicine, 2024, v. 23, n. 4, p. 723, doi. 10.4103/aam.aam_40_24

By:

Oderinlo, Olufemi;
Akanbi, Toyin

Publication type:

Article

Adult-onset Foveomacular Vitelliform Dystrophy: a Teaching Case Report.

Published in:

Optometric Education, 2024, v. 49, n. 2, p. 35

By:

Sharma, Deepak;
Hamilton, Jonathan

Publication type:

Article

Stargardt Disease: a Teaching Case Series.

Published in:

Optometric Education, 2023, v. 49, n. 1, p. 24

By:

Bhakhri, Raman;
Neidermann, Sarah;
Vivacqua, Gabriella

Publication type:

Article

The role of multimodal imaging and vision function testing in ABCA4 -related retinopathies and their relevance to future therapeutic interventions.

Published in:

Therapeutic Advances in Ophthalmology, 2021, p. 1, doi. 10.1177/25158414211056384

By:

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

Publication type:

Article

DEEP PERONA--MALIK DIFFUSIVE MEAN SHIFT IMAGE CLASSIFICATION FOR EARLY GLAUCOMA AND STARGARDT DISEASE DETECTION.

Published in:

Malaysian Journal of Computer Science, 2023, v. 36, n. 1, p. 14, doi. 10.22452/mjcs.vol36no1.2

By:

Arunachalam, Senthil kumar;
Devaraj, Somasundaram;
Sridharan, Bhavani

Publication type:

Article

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1234032

By:

Rodríguez-Hidalgo, María;
de Bruijn, Suzanne E.;
Corradi, Zelia;
Rodenburg, Kim;
Lara-López, Araceli;
Valverde-Megías, Alicia;
Ávila-Fernández, Almudena;
Fernandez-Caballero, Lidia;
Del Pozo-Valero, Marta;
Corominas, Jordi;
Gilissen, Christian;
Irigoyen, Cristina;
Cremers, Frans P. M.;
Ayuso, Carmen;
Ruiz-Ederra, Javier;
Roosing, Susanne

Publication type:

Article

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26161-7

By:

Scortecci, Jessica Fernandes;
Molday, Laurie L.;
Curtis, Susan B.;
Garces, Fabian A.;
Panwar, Pankaj;
Van Petegem, Filip;
Molday, Robert S.

Publication type:

Article

Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus: Multimodal Imaging for Early Diagnosis.

Published in:

Case Reports in Ophthalmology, 2021, v. 12, n. 2, p. 724, doi. 10.1159/000517611

By:

Rotsos, Tryfon;
Gkounta, Alexandra;
Symeonidis, Chrysanthos;
Lavaris, Anastasios;
Mavrikakis, Emmanouil

Publication type:

Article

Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.

Published in:

Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03804-2

By:

Puertas-Neyra, Kevin;
Coco-Martin, Rosa M.;
Hernandez-Rodriguez, Leticia A.;
Gobelli, Dino;
Garcia-Ferrer, Yenisey;
Palma-Vecino, Raicel;
Tellería, Juan José;
Simarro, Maria;
de la Fuente, Miguel A.;
Fernandez-Bueno, Ivan

Publication type:

Article

Stem cell therapy for inherited retinal diseases: a systematic review and meta-analysis.

Published in:

Stem Cell Research & Therapy, 2023, v. 14, n. 1, p. 1, doi. 10.1186/s13287-023-03526-x

By:

Chen, Xiaodong;
Xu, Ningda;
Li, Jiarui;
Zhao, Mingwei;
Huang, Lvzhen

Publication type:

Article

Plan for the Future.

Published in:: Braille Monitor, 2025, v. 68, n. 5, p. 300
Publication type:: Article

Plan for the Future.

Published in:

Braille Monitor, 2025, v. 68, n. 4, p. 241

By:

Dustin

Publication type:

Article

Plan for the Future.

Published in:: Braille Monitor, 2025, v. 68, n. 3, p. 190
Publication type:: Article

Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report.

Published in:

2022

By:

Lugo-Merly, Ambar;
Thurin, Leonardo J Molina;
Izquierdo-Encarnacion, Natalio J;
Casillas-Murphy, Stella M;
Oliver-Cruz, Armando

Publication type:

Case Study

Swept-source optical coherence tomography study of choroidal morphology in Stargardt disease.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 2, p. 150, doi. 10.4103/ojo.OJO_21_2017

By:

Ratra, Dhanashree;
Jaishankar, Durgasri;
Sachidanandam, Ramya;
Yusufali, Hatim;
Ratra, Vineet

Publication type:

Article

Dome-shaped macula simulating choroidal hemangioma in a myopic patient.

Published in:

Oman Journal of Ophthalmology, 2015, v. 8, n. 3, p. 188, doi. 10.4103/0974-620X.169899

By:

Iyer, Prashanth G.;
Say, Emil Anthony T.;
Shields, Carol L.

Publication type:

Article

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

Published in:

PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132635

By:

Xin, Wei;
Xiao, Xueshan;
Li, Shiqiang;
Jia, Xiaoyun;
Guo, Xiangming;
Zhang, Qingjiong

Publication type:

Article

Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095528

By:

Zhang, Xiao;
Ge, Xianglian;
Shi, Wei;
Huang, Ping;
Min, Qingjie;
Li, Minghan;
Yu, Xinping;
Wu, Yaming;
Zhao, Guangyu;
Tong, Yi;
Jin, Zi-Bing;
Qu, Jia;
Gu, Feng

Publication type:

Article

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in <i>ABCA4</i> in a Chinese Family with Stargardt Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091962

By:

Zhou, Yu;
Tao, Siyu;
Chen, Hui;
Huang, Lulin;
Zhu, Xiong;
Li, Youping;
Wang, Zhili;
Lin, He;
Hao, Fang;
Yang, Zhenglin;
Wang, Liya;
Zhu, Xianjun

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

The frequency of choroidal neovascularization from causes other than age-related macular degeneration in the Department of Ophthalmology and Ocular Oncology at the University Hospital in Krakow.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2022, v. 124, n. 2, p. 16, doi. 10.5114/ko.2022.113360

By:

Pociej-Marciak, Weronika;
Markiewicz, Anna;
Nocuń, Justyna;
Leśniak, Anna;
Bukowska-Mikos, Barbara;
Kubicka-Trząska, Agnieszka;
Romanowska-Dixon, Bożena;
Karska-Basta, Izabella

Publication type:

Article

The frequency of choroidal neovascularization from causes other than age-related macular degeneration in the Department of Ophthalmology and Ocular Oncology at the University Hospital in Krakow.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2022, v. 124, n. 1, p. 16, doi. 10.5114/ko.2022.113360

By:

Pociej-Marciak, Weronika;
Markiewicz, Anna;
Nocuń, Justyna;
Leśniak, Anna;
Bukowska-Mikos, Barbara;
Kubicka-Trząska, Agnieszka;
Romanowska-Dixon, Bożena;
Karska-Basta, Izabella

Publication type:

Article

Adaptive optics imaging in the most common inherited retinal degenerations.

Published in:

Acta Ophthalmologica Polonica / Klinika Oczna, 2021, v. 123, n. 2, p. 74, doi. 10.5114/ko.2021.107769

By:

Samelska, Katarzyna;
Kupis, Magdalena;
Zaleska-Żmijewska, Anna;
Szaflik, Jacek P.

Publication type:

Article