ABCA4 disease progression and a proposed strategy for gene therapy
Cideciyan, Artur V., Swider, Malgorzata, Aleman, Tomas S., Tsybovsky, Yaroslav, Schwartz, Sharon B., Windsor, Elizabeth A.M., Roman, Alejandro J., Sumaroka, Alexander, Steinberg, Janet D., Jacobson, Samuel G., Stone, Edwin M., Palczewski, Krzysztof·2009·Human Molecular Genetics
Cited by (186)
Items 101–186 of 186
- Preimplantation Genetic Diagnosis for Stargardt DiseaseMahsa A. Sohrab, Rando L. Allikmets, Michael M. Guarnaccia, Roland Theodore Smith · 2010 · American Journal of Ophthalmology
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- ATP‐binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461‐10T>C cause Stargardt disease due to defective splicingFrida Jonsson, Ida Maria Westin, Lennart Österman, Ola Sandgren, Marie S. I. Burstedt, Monica Holmberg, Irina Golovleva · 2018 · Acta Ophthalmologica
- Exome sequencing study of 20 patients with high myopiaLing Wan, Boling Deng, Zhengzheng Wu, Xiaoming Chen · 2018 · PeerJ
- A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal DiseaseBeau James Fenner, S. Scott Whitmore, Adam P. DeLuca, Jean Andorf, Heather T. Daggett, Meagan A. Luse, Lorena De Melo Haefeli, Janet B. Riley, D. Brice Critser, Mark E. Wilkinson et al. · 2024 · Ophthalmology
- Imaging Lenticular Autofluorescence in Older SubjectsJason Charng, Rose Tan, Chi D. Luu, Sam Sadigh, Dwight E. Stambolian, Robyn H. Guymer, Samuel G. Jacobson, Artur V. Cideciyan · 2017 · Investigative Ophthalmology & Visual Science
- Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 GenePanagiotis I. Sergouniotis, Martin McKibbin, Anthony G. Robson, Hanno J. Bolz, Elfride B. W. De Baere, Philipp L. Müller, Raoul Heller, Mohammed E. El‐Asrag, Kristof Van Schil, Vincent Plagnol et al. · 2015 · Investigative Ophthalmology & Visual Science
- Distinct mouse models of Stargardt disease display differences in pharmacological targeting of ceramides and inflammatory responsesZachary J Engfer, Dominik Lewandowski, Zhiqian Dong, Grażyna Palczewska, Jianye Zhang, Katarzyna Kordecka, Jagoda Płaczkiewicz, Damian Panas, Andrzej T. Foik, Marcin Tabaka et al. · 2023 · Proceedings of the National Academy of Sciences
- Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2Xiangrong Kong, Mohamed Ibrahim, Millena Gomes Bittencourt, Rupert Wolfgang Strauss, David G. Birch, Artur V. Cideciyan, Ann‐Margret Ervin, Alexander Ho, Janet S. Sunness, Isabelle S. Audo et al. · 2021 · American Journal of Ophthalmology
- Bilateral Symmetry of Visual Function Loss in Cone–Rod DystrophiesLucia Galli‐Resta, Benedetto Falsini, Giuseppe Rossi, Marco Piccardi, Lucia Ziccardi, Antonello Fadda, Angelo Maria Minnella, Dario Marangoni, Giorgio Placidi, Francesca Campagna et al. · 2016 · Investigative Ophthalmology & Visual Science
- VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40Frederick T. Collison, Gerald Allen Fishman · 2017 · Retina
- Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technologyLinghui Qu, Xin Jin, Haiwei Xu, Shiying Li, Zhengqin Yin · 2014 · Molecular Genetics and Genomics
- Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype CorrelationMariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patrícia Varela, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, John Chiang, João Bosco Pesquero, Juliana Maria Ferraz Sallum · 2017 · Investigative Ophthalmology & Visual Science
- Stargardt Disease: towards developing a model to predict phenotypeLaura Jane Heathfield, Miguel Lacerda, Christel Nossek, Lisa J. Roberts, Raj Ramesar · 2013 · European Journal of Human Genetics
- Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated AllelesSmaragda Kamakari, Vassiliki Kokkinou, George Koutsodontis, P. Stamatiou, Giatzakis Christoforos, Anastasios Anastasakis, A. Minas, Stavrenia C. Koukoula, Theonitsa D. Panagiotoglou, Ioannis Datseris et al. · 2018 · Journal of Ophthalmology
- Macular DystrophiesElliott H. Sohn, Robert F. Mullins, Edwin M. Stone · 2012 · Elsevier eBooks
- Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt DiseaseRando L. Allikmets, Jana Zernant, Winston Lee · 2018 · Investigative Ophthalmology & Visual Science
- Different Phenotypes Represent Advancing Stages of ABCA4 -Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary CenterYingwei Wang, Wenmin Sun, Jing Zhou, Xueqing Li, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Jiamin Ouyang, Yueye Wang et al. · 2022 · Investigative Ophthalmology & Visual Science
- Retinal light sensitivity as outcome measure in recessive Stargardt diseaseMaximilian Pfau, Frank Gerhard Holz, Philipp L. Müller · 2020 · British Journal of Ophthalmology
- Cell-cell interaction in the pathogenesis of inherited retinal diseasesXue Du, Anna G. Butler, Holly Y. Chen · 2024 · Frontiers in Cell and Developmental Biology
- Should patients with ocular genetic disorders have genetic testing?Mario Zanolli, Vikas Khetan, Gad Dotan, Laura T. Pizzi, Alex V. Levin · 2014 · Current Opinion in Ophthalmology
- Inherited Retinal DegenerationsAiraj F. Fasiuddin · 2010 · International Ophthalmology Clinics
- Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.Salvador López-Rubio, Oscar Francisco Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C. Astiazarán, Juan Carlos Zenteno · 2018 · PubMed Central
- FUNDUS AUTOFLUORESCENCE, OPTICAL COHERENCE TOMOGRAPHY, AND ELECTRORETINOGRAM FINDINGS IN CHOROIDAL SCLEROSISJohn Chopin Hwang, David Y. Kim, Chai Lin Chou, Stephen H. Tsang · 2010 · Retina
- Optical coherence tomography angiography in the diagnosis of ocular diseaseMichael Kalloniatis, Henrietta Wang, Jack Phu, Janelle Tong, James Andrew Armitage · 2024 · Clinical and Experimental Optometry
- A polymorphic marker associated with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern ChinaNa Mi, Yanru Hao, Xiaohui Jiao, Xudong Zheng, Jinna Shi, Yongjie Chen · 2014 · Archives of Oral Biology
- Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.Kwangsic Joo, Moon‐Woo Seong, Kyu Hyung Park, Sung Sup Park, Se Joon Woo · 2019 · PubMed Central
- Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic CorrelatesMaximilian Pfau, Laryssa A. Huryn, Marisa P. Boyle, Catherine A. Cukras, Wadih M. Zein, Amy E. Turriff, Ehsan Ullah, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks · 2023 · American Journal of Ophthalmology
- ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder PhenotypeYingwei Wang, Pangfeng Wang, Zhen Yi, Jiamin Ouyang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, James Fielding Hejtmancik, Wenmin Sun et al. · 2025 · Investigative Ophthalmology & Visual Science
- Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomographyS. Scott Whitmore, Adam P. DeLuca, Jeaneen L. Andorf, Justine L. Cheng, Mahsaw Mansoor, Christopher R. Fortenbach, D. Brice Critser, Jonathan F. Russell, Edwin M. Stone, Ian C. Han · 2023 · Scientific Reports
- Visual Cortex Activation in Patients With Stargardt DiseasePaolo Melillo, Anna Prinster, Valentina Di Iorio, Gaia Olivo, Francesco Maria D’Alterio, Sirio Cocozza, Ada Orrico, Mario Quarantelli, Francesco Testa, Arturo Brunetti et al. · 2018 · Investigative Ophthalmology & Visual Science
- Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseasesSrilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A. Gadkari, Ashraf ul Mannan, Nagasamy Soumittra · 2016 · Journal of Human Genetics
- Genotype–Phenotype Association in ABCA4-Associated RetinopathyMaximilian Pfau, Wadih M. Zein, Laryssa A. Huryn, Catherine A. Cukras, Brett G. Jeffrey, Robert B. Hufnagel, Brian P. Brooks · 2023 · Advances in experimental medicine and biology
- Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt diseaseMarta Oldani, Sylvia Marchi, Andrea Giani, Stefano Cecchin, Eleonora Rigoni, Alessandro Persi, Damiano Podavini, A. Guerrini, A. Nervegna, Giovanni Staurenghi et al. · 2012 · Genetics and Molecular Research
- Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic MicroperimetryArun K. Krishnan, Alejandro J. Román, Małgorzata Świder, Samuel G. Jacobson, Artur V. Cideciyan · 2021 · Translational Vision Science & Technology
- Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus FlavimaculatusJulien Fars, Francesca Pasutto, Jan Kremers, Cord R. Huchzermeyer · 2021 · Investigative Ophthalmology & Visual Science
- Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-AnalysisMohammad Moslem Imani, Masoud Sadeghi, Santosh Kumar Tadakamadla, Annette Beatrix Brühl, Dena Sadeghi Bahmani, Mohammad Naser Taheri, Serge Brand · 2021 · Life
- Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5Randa Tsz Ha Li, Alejandro J. Román, Alexander Sumaroka, Chloë M. Stanton, Małgorzata Świder, Alexandra V. Garafalo, Elise Héon, Ajoy Vincent, Alan F. Wright, Roly D. Megaw et al. · 2023 · Investigative Ophthalmology & Visual Science
- Clinical Trials of GMP Products in the Gene Therapy FieldKathleen B. Bamford · 2011 · Methods in molecular biology
- Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencingMohammed Abu‐Ameerh, Hashim Mohammad, Zain Dardas, Raghda Barham, Dema Ali, Maysa Bijawi, Mohamed Tawalbeh, Sami Samir Amr, Ma’mon M. Hatmal, Muawyah Dawoud Al Bdour et al. · 2020 · Molecular Genetics & Genomic Medicine
- Inherited retinal diseases in patients with ABCA4 gene mutationsNatalia L. Sheremet, И.Г. Грушкэ, Nino V. Zhorzholadze, Alexander S. Tanas, V. V. Strelnikov · 2018 · Russian Annals of Ophthalmology
- Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt DiseaseStéphanie S. Cornelis, Miriam Bauwens, Lonneke Haer‐Wigman, Marieke De Bruyne, Madhulatha Pantrangi, Elfride B. W. De Baere, Robert B. Hufnagel, Claire‐Marie Dhaenens, Frans P.M. Cremers · 2023 · medRxiv
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophiesLasse Wolfram, David Adrian Merle, Laura Kuehlewein, Milda Reith, Melanie Kempf, Krunoslav T. Stingl, Tobias B. Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh et al. · 2025 · BMC Ophthalmology
- Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre studySandy Sao Su, Choi Mun Chan, Yasmin M. Bylstra, Tien‐En Tan, Sylvia Kam, Rachael W. C. Tang, Kanika Jain, Ranjana S. Mathur, Pooi Wah Lott, Saadia Z. Farooqui et al. · 2025 · Ophthalmic Genetics
- Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt diseaseLinghui Qu, Xin Jin, Chao Zeng, Nian-gou Zhou, Yanhong Liu, Lin Ye · 2021 · Bioscience Reports
- An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK BiobankMark J. Simcoe, Gavin Arno, Pirro G. Hysi, Tony H. Ko, Michel Michaelides, Christopher J. Hammond, Praveen J. Patel, Omar A. Mahroo, Andrew R. Webster · 2023 · Investigative Ophthalmology & Visual Science
- Local progression kinetics of macular atrophy in recessive Stargardt diseaseBenjamin K. Young, Peter Y. Zhao, Liangbo Linus Shen, Abigail T. Fahim, Thiran Jayasundera · 2023 · Ophthalmic Genetics
- Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studiesBarbara Zangerl, S. J. Lindauer, Gregory M. Acland, Geoffrey K. Aguirre · 2010 · Molecular Genetics and Genomics
- Gene Therapy for Blinding Pediatric Eye DisordersAlina V. Dumitrescu, Arlene V. Drack · 2015 · Advances in Pediatrics
- Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus SyndromeXiujie Gong, Ian P. Boydstun, William Lawhon, Nancy N. Hanna, Palak B. Wall, Aaron Flickinger, E. Eugenie Hartmann, Richard W Hertle · 2025 · Investigative Ophthalmology & Visual Science
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal DegenerationsAlexander Sumaroka, Małgorzata Świder, Tomás S. Alemán, Artur V. Cideciyan · 2025 · Translational Vision Science & Technology
- Pesquisa translacional na oftalmologia: o caminho para a medicina personalizadaRubens Camargo Siqueira · 2012 · Revista Brasileira de Oftalmologia
- Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotypingYousif J. Shwetar, Brian P. Brooks, Brett G. Jeffrey, Benjamin D. Solomon, Melissa Anne Haendel · 2025 · International Ophthalmology
- Translational research in retinologyRubens Camargo Siqueira, Jorge · 2011 · Clinical ophthalmology
- Stargardt Disease: Gene Therapy Strategies for ABCA4Cristy A. Ku, Paul G Yang · 2021 · International Ophthalmology Clinics
- Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal DiseasesCord R. Huchzermeyer, Katarína Štingl, Jan Kremers · 2025 · Investigative Ophthalmology & Visual Science
- Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneityDomenico Mordà, Simona Alibrandi, Concetta Scimone, Carmela Rinaldi, Sergio Zaccaria Scalinci, Giorgia Abate, Rosalia D’Angelo, Antonina Sidoti, Luigi Donato · 2025 · Progress in Retinal and Eye Research
- Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt DiseaseJeroen A. A. H. Pas, Sandrine H. Künzel, Georg Ansari, Kristina Pfau, Petrus Chang, Philipp Herrmann, Frank G. Holz, Carel B. Hoyng, Maximilian Pfau · 2026 · Investigative Ophthalmology & Visual Science
- Inherited retinal degenerations: clinical phenotypes and emerging therapiesKatherine E. Uyhazi, Erin C. O'Neil, Tomás S. Alemán, Artur V. Cideciyan · 2026 · The Lancet
- Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trialsNuno Filipe Aguiar Silva · 2010 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
- Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease PatientsEnsieh Darbari, Hamid Ahmadieh, Narsis Daftarian, Mozhgan Rezaei Kanavi, Fatemeh Suri, Elahe Elahi · 2022 · Journal of Ophthalmic and Vision Research
- Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophiesJacqueline Z.-M. Chan, Jolyon Holdstock, John Shovelton, James Reid, Graham Speight, Duarte Molha, Venu Pullabhatla, Stephanie J. Carpenter, Ezam Uddin, Takanori Washio et al. · 2024 · PLoS ONE
- Understanding the genetic pathology of Stargardt disease: a review of current findings and challengesDavid A. Camp, Michael C. Gemayel, Thomas A. Ciulla · 2021 · Expert Opinion on Orphan Drugs
- Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in ABCA4Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
- Genetics of inherited retinal degenerationEmily I. Schindler · 2011
- Thematic Review Series: Lipids and Lipid Metabolism in the Eye Phospholipid meets all- trans -retinal: the making of RPE bisretinoidsJanet R. Sparrow, Yalin Wu, Chul Y. Kim, Jilin Zhou · 2010
- Der natürliche Verlauf der ChoroideremieImmanuel Philipp Seitz, M. Fischer · 2019 · Klinische Monatsblätter für Augenheilkunde
- Pathogenic Mechanisms Underlying Stargardt Macular Degeneration Linked to Mutations in the Transmembrane Domains of ABCA4Fabian A. Garces, Jéssica Fernandes Scortecci, Robert S. Molday · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
- Polymorphisms of ATP-binding cassette, sub-family A, member 4 (rs560426 and rs481931) and non-syndromic cleft lip/palate: A systematic review and meta-analysisMohammad Moslem Imani, Mohsen Safaei, Pía López‐Jornet, Eduardo Pons-Fuster, Masoud Sadeghi · 2019
- Molecular analysis of ABCA4 gene in an Iranian cohort with Stargardt diseaseMahdie Davoudi, Azam Amirian, Shohreh Zare Karizi, Morteza Karimipoor · 2021 · Gene Reports
- Peer Review #2 of "Exome sequencing study of 20 patients with high myopia (v0.2)"2018 · PeerJ
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- Diagnostic and Therapeutic ChallengesDhanashree Ratra, Dhanashree Mane Dhabalia, Ekta Singh Sahu, Tomás S. Alemán · 2016 · Retina
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- ABCA4- Related Retinopathies in Lebanon: a novel mutation and significant heterogeneityMariam Ibrahim, Lama Jaffal, Alexandre Assi, Charles Helou, Saïd El Shamieh · 2023 · medRxiv
- Introduction to Stargardt DiseaseJeffrey Neill Weiss · 2024 · Springer eBooks
- Inherited retinal and choroidal dystrophiesSuma P. Shankar · 2024 · Elsevier eBooks
- Retinal thickness and visual acuity in early-onset Stargardt disease follow a non-linear progression curve: implications for clinical trialsS. Scott Whitmore, D. Brice Critser, Edwin M. Stone, Ian C. Han · 2025 · Ophthalmic Genetics
- Multimodal imaging in autosomal recessive Stargardt’s diseaseSagar Agarwal, Madhurima A Nayak, Shilpa Sood · 2025 · BMJ Case Reports
- ABCA4-associated disease in childhood and adolescence– a phenotype studyJan-Philipp Bodenbender, Annekatrin Rickmann, Katarína Štingl, Susanne Kohl, Laura Kuehlewein · 2025 · Graefe s Archive for Clinical and Experimental Ophthalmology
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