Works matching DE "STARGARDT disease"

Results: 261

Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene.

Published in:

Eye (0950-222X), 2013, v. 27, n. 11, p. 1316, doi. 10.1038/eye.2013.176

By:

Gemenetzi, M;
Lotery, A J

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

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1630

By:

Gatticchi, Leonardo;
Vešelényiová, Dominika;
Miertus, Jan;
Enrico Maltese, Paolo;
Manara, Elena;
Costantini, Alisia;
Benedetti, Sabrina;
Ďurovčíková, Darina;
Krajcovic, Juraj;
Bertelli, Matteo

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1259

By:

Huang, Di;
Thompson, Jennifer A.;
Charng, Jason;
Chelva, Enid;
McLenachan, Samuel;
Chen, Shang‐Chih;
Zhang, Dan;
McLaren, Terri L.;
Lamey, Tina M.;
Constable, Ian J.;
De Roach, John N.;
Aung‐Htut, May Thandar;
Adams, Abbie;
Fletcher, Sue;
Wilton, Steve D.;
Chen, Fred K.

Publication type:

Article

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-51203-7

By:

Kaltak, Melita;
de Bruijn, Petra;
van Leeuwen, Willemijn;
Platenburg, Gerard;
Cremers, Frans P. M.;
Collin, Rob W. J.;
Swildens, Jim

Publication type:

Article

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-51203-7

By:

Kaltak, Melita;
de Bruijn, Petra;
van Leeuwen, Willemijn;
Platenburg, Gerard;
Cremers, Frans P. M.;
Collin, Rob W. J.;
Swildens, Jim

Publication type:

Article

Fundus autofluorescence imaging using red excitation light.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36217-x

By:

Birtel, Johannes;
Bauer, Tobias;
Pauleikhoff, Laurenz;
Rüber, Theodor;
Gliem, Martin;
Charbel Issa, Peter

Publication type:

Article

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

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-35889-9

By:

Whelan, Laura;
Dockery, Adrian;
Stephenson, Kirk A. J.;
Zhu, Julia;
Kopčić, Ella;
Post, Iris J. M.;
Khan, Mubeen;
Corradi, Zelia;
Wynne, Niamh;
O' Byrne, James J.;
Duignan, Emma;
Silvestri, Giuliana;
Roosing, Susanne;
Cremers, Frans P. M.;
Keegan, David J.;
Kenna, Paul F.;
Farrar, G. Jane

Publication type:

Article

Focal Choroidal Excavation in Retinal Dystrophies.

Published in:

2018

By:

Braimah, Imoro Zeba;
Rapole, Shruthi;
Dumpala, Sunila;
Chhablani, Jay

Publication type:

journal article

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

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.

Published in:

PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007873

By:

Mäkeläinen, Suvi;
Gòdia, Marta;
Hellsand, Minas;
Viluma, Agnese;
Hahn, Daniela;
Makdoumi, Karim;
Zeiss, Caroline J.;
Mellersh, Cathryn;
Ricketts, Sally L.;
Narfström, Kristina;
Hallböök, Finn;
Ekesten, Björn;
Andersson, Göran;
Bergström, Tomas F.

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

An Improved Segmentation Technique for Early Detection of Exudates of Diabetic Retinopathy Disease.

Published in:

Iraqi Journal of Science, 2019, v. 60, n. 11, p. 2520, doi. 10.24996/ijs.2019.60.11.25

By:

Mahmood, Faleh H.;
Aziz, Shahad Abdul-Jabbar

Publication type:

Article

Total flow intensity, active flow intensity and volume related flow intensity as new quantitative metrics in optical coherence tomography angiography.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-88681-y

By:

Arrigo, Alessandro;
Perra, Cristian;
Aragona, Emanuela;
Giusto, Daniele;
Bandello, Francesco;
Battaglia Parodi, Maurizio

Publication type:

Article

Inferred retinal sensitivity in recessive Stargardt disease using machine learning.

Published in:

Scientific Reports, 2021, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-80766-4

By:

Müller, Philipp L.;
Odainic, Alexandru;
Treis, Tim;
Herrmann, Philipp;
Tufail, Adnan;
Holz, Frank G.;
Pfau, Maximilian

Publication type:

Article

Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73645-5

By:

Whitmore, S. Scott;
Fortenbach, Christopher R.;
Cheng, Justine L.;
DeLuca, Adam P.;
Critser, D. Brice;
Geary, Elizabeth L.;
Hoffmann, Jeremy M.;
Stone, Edwin M.;
Han, Ian C.

Publication type:

Article

Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73339-y

By:

Charng, Jason;
Xiao, Di;
Mehdizadeh, Maryam;
Attia, Mary S.;
Arunachalam, Sukanya;
Lamey, Tina M.;
Thompson, Jennifer A.;
McLaren, Terri L.;
De Roach, John N.;
Mackey, David A.;
Frost, Shaun;
Chen, Fred K.

Publication type:

Article

Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies.

Published in:

Ophthalmology & Therapy, 2020, v. 9, n. 2, p. 249, doi. 10.1007/s40123-020-00241-1

By:

Cicinelli, Maria Vittoria;
Marchese, Alessandro;
Bordato, Alessandro;
Manitto, Maria Pia;
Bandello, Francesco;
Battaglia Parodi, Maurizio

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

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

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

Retinal cell transplantation: prospects for the future.

Published in:

Expert Review of Ophthalmology, 2012, v. 7, n. 2, p. 99, doi. 10.1586/eop.12.9

By:

Ali, Robin R.;
Bainbridge, James W. B.

Publication type:

Article

Dietary profile of patients with Stargardt's disease and Retinitis Pigmentosa: is there a role for a nutritional approach?

Published in:

2016

By:

Sofi, Francesco;
Sodi, Andrea;
Franco, Fabrizio;
Murro, Vittoria;
Biagini, Dania;
Miele, Alba;
Abbruzzese, Giacomo;
Mucciolo, Dario Pasquale;
Virgili, Gianni;
Menchini, Ugo;
Casini, Alessandro;
Rizzo, Stanislao

Publication type:

journal article

Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.

Published in:

Japanese Journal of Ophthalmology, 2024, v. 68, n. 3, p. 167, doi. 10.1007/s10384-024-01060-8

By:

Ueno, Shinji;
Hayashi, Takaaki;
Tsunoda, Kazushige;
Aoki, Takuya;
Kondo, Mineo

Publication type:

Article

Foveal sparing in patients with Japanese Stargardt's disease and good visual acuity.

Published in:

Japanese Journal of Ophthalmology, 2012, v. 56, n. 6, p. 584, doi. 10.1007/s10384-012-0172-1

By:

Nakao, Takeshi;
Tsujikawa, Motokazu;
Sawa, Miki;
Gomi, Fumi;
Nishida, Kohji

Publication type:

Article

Using Ensemble OCT-Derived Features beyond Intensity Features for Enhanced Stargardt Atrophy Prediction with Deep Learning.

Published in:

Applied Sciences (2076-3417), 2023, v. 13, n. 14, p. 8555, doi. 10.3390/app13148555

By:

Mishra, Zubin;
Wang, Ziyuan;
Sadda, SriniVas R.;
Hu, Zhihong

Publication type:

Article

Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites.

Published in:

Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47911-3

By:

Wang, Wei-Chieh;
Huang, Chu-Hsuan;
Chung, Hsin-Hsiang;
Chen, Pei-Lung;
Hu, Fung-Rong;
Yang, Chang-Hao;
Yang, Chung-May;
Lin, Chao-Wen;
Hsu, Cheng-Chih;
Chen, Ta-Ching

Publication type:

Article

That's not AMD! Mimickers of age-related macular degeneration.

Published in:

Optometry Times, 2025, v. 17, n. 2, p. 16

By:

Hatcher, Kensington;
Kondapalli, Srinivas

Publication type:

Article

Evaluating early-onset Stargardt disease.

Published in:

2016

By:

SEMES, LEO

Publication type:

Case Study

Contribution of Optical Coherence Tomography to the Diagnosis of Childhood-Onset Stargardt Disease in Its Early Stages.

Published in:

Journal of Pediatric Ophthalmology & Strabismus, 2021, v. 58, n. 3, p. e5, doi. 10.3928/01913913-20210205-01

By:

de-Pablo-Cabrera, Almudena;
Muñoz-Gallego, Alicia;
Tejada-Palacios, Pilar

Publication type:

Article

Optical Coherence Tomography Angiography Findings in Stargardt Disease.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170343

By:

Mastropasqua, Rodolfo;
Toto, Lisa;
Borrelli, Enrico;
Di Antonio, Luca;
Mattei, Peter A.;
Senatore, Alfonso;
Di Nicola, Marta;
Mariotti, Cesare

Publication type:

Article

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

Published in:

Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04406-x

By:

Kaltak, Melita;
Blanco-Garavito, Rocio;
Molday, Laurie L.;
Dhaenens, Claire-Marie;
Souied, Eric E.;
Platenburg, Gerard;
Swildens, Jim;
Molday, Robert S.;
Cremers, Frans P. M.

Publication type:

Article

PRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.

Published in:

2024

By:

Fernández-Berdasco, Karina;
Galvez-Olortegui, José;
Guillén-Lozada, Sussan's Pamela;
García González, Noelia;
Castro-Navarro, Joaquín

Publication type:

Case Study

Macular dystrophies associated with Stargardt-like phenotypes.

Published in:

Arquivos Brasileiros de Oftalmologia, 2024, v. 87, n. 4, p. 1, doi. 10.5935/0004-2749.2021-0415

By:

Amaral, Rebeca A. S.;
Zin, Olivia A.;
Salles, Mariana V.;
Motta, Fabiana L.;
Ferraz Sallum, Juliana Maria

Publication type:

Article

A rare association between angioid streaks and pattern dystrophy.

Published in:

2023

By:

Bezerra Kitahara, Renato;
Flores Teixeira, Fernando Henrique;
Moreira dos Santos, Fernando;
Mac Cord Medina, Flavio;
dos Santos Motta, Mário Martins

Publication type:

Letter to the Editor

Unusual clinical phenotype of Stargardt disease.

Published in:

Arquivos Brasileiros de Oftalmologia, 2021, v. 84, n. 4, p. 391, doi. 10.5935/0004-2749.20210064

By:

Molina-Solana, Pedro;
Morillo-Sánchez, María José;
Méndez-Vidal, Cristina;
Ramos-Jiménez, Manuel;
Domínguez-Serrano, Borja;
Antiñolo, Guillermo;
Rodríguez-de-la-Rúa-Franch, Enrique

Publication type:

Article

Clinical and electroretinographic profile of 27 patients with Stargardt disease treated at a hospital in Brazil.

Published in:

Arquivos Brasileiros de Oftalmologia, 2021, v. 84, n. 4, p. 367, doi. 10.5935/0004-2749.20210053

By:

Schemberger Schafranski, Letícia;
Honda Müller, Izabelle Yumi;
Teruo Sato, Mario

Publication type:

Article

Macular dystrophy associated with Kjellin's syndrome: a case report.

Published in:

2015

By:

DE CASTRO, VINÍCIUS MONTEIRO;
MEIRELLES, ANDRÉ;
ARCIERI, RAFAEL SARAN;
MESSIAS, KATHARINA;
MESSIAS, ANDRÉ

Publication type:

Case Study

Subretinal fibrosis in Stargardt's disease: case report.

Published in:

Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 6, p. 449, doi. 10.1590/S0004-27492011000600015

By:

GRANDINETTI, ALEXANDRE ACHILLE;
PORTELLA, EZEQUIEL;
ARANA, JAYME;
VIEIRA ISKOROSTENSKI, NATASHA TATIANA

Publication type:

Article

Creating Utopia In The Rubble.

Published in:

Journal of Customer Behaviour, 2023, v. 22, n. 4, p. 336, doi. 10.1362/10.1362/147539223x17026547268583

By:

Krszjzaniek, Eric

Publication type:

Article

Editorial Profiles.

Published in:: Clinical & Experimental Ophthalmology, 2021, v. 49, n. 5, p. 405, doi. 10.1111/ceo.13955
Publication type:: Article

Stargardt disease: Multimodal imaging: A review.

Published in:

Clinical & Experimental Ophthalmology, 2021, v. 49, n. 5, p. 498, doi. 10.1111/ceo.13947

By:

Heath Jeffery, Rachael C.;
Chen, Fred K.

Publication type:

Article

Early impairment of the full‐field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.

Published in:

Clinical & Experimental Ophthalmology, 2018, v. 46, n. 5, p. 519, doi. 10.1111/ceo.13115

By:

Abed, Edoardo;
Placidi, Giorgio;
Campagna, Francesca;
Federici, Matteo;
Minnella, Angelo;
Piccardi, Marco;
Falsini, Benedetto;
Guerri, Giulia;
Bertelli, Matteo;
Galli‐Resta, Lucia

Publication type:

Article

Lycium barbarum polysaccharide extracts preserve retinal function and attenuate inner retinal neuronal damage in a mouse model of transient retinal ischaemia.

Published in:

Clinical & Experimental Ophthalmology, 2017, v. 45, n. 7, p. 717, doi. 10.1111/ceo.12950

By:

Yang, Di;
So, Kwok‐Fai;
Lo, Amy CY

Publication type:

Article

Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-85213-w

By:

Khateri, Parisa;
Koottungal, Tiana;
Wong, Damon;
Strauss, Rupert W.;
Janeschitz-Kriegl, Lucas;
Pfau, Maximilian;
Schmetterer, Leopold;
Scholl, Hendrik P. N.

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

Molecular diagnosis of putative Stargardt disease probands by exome sequencing.

Published in:

BMC Medical Genetics, 2012, v. 13, n. 1, p. 67, doi. 10.1186/1471-2350-13-67

By:

Strom, Samuel P.;
Yong-Qing Gao;
Martinez, Ariadna;
Ortube, Carolina;
Chen, Zugen;
Nelson, Stanley F.;
Nusinowitz, Steven;
Farber, Deborah B.;
Gorin, Michael B.

Publication type:

Article

Retinal metabolism in humans induces the formation of an unprecedented lipofuscin fluorophore 'pdA2E'.

Published in:

Biochemical Journal, 2014, v. 460, n. 3, p. 343, doi. 10.1042/BJ20140089

By:

WU, Yalin;
JIN, Qiuxia;
YAO, Ke;
ZHAO, Junli;
CHEN, Jingmeng;
WU, Xiaodan;
GAN, Lishe;
LI, Jie;
SONG, Xiaohui;
LIU, Xin;
CAI, Xianhui

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