ABCA4 disease progression and a proposed strategy for gene therapy

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Items 101–186 of 186

  1. Preimplantation Genetic Diagnosis for Stargardt Disease
    Mahsa A. Sohrab, Rando L. Allikmets, Michael M. Guarnaccia, Roland Theodore Smith · 2010 · American Journal of Ophthalmology
  2. Peripheral Pigmented Retinal Lesions in Stargardt Disease
    Peter Y. Zhao, Maria Fernanda Abalem, Daniel A. Nadelman, Cynthia X. Qian, Kari E. H. Branham, Dana Schlegel, Naheed Wali Khan, John R. Heckenlively, Thiran Jayasundera · 2017 · American Journal of Ophthalmology
  3. ATP‐binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461‐10T>C cause Stargardt disease due to defective splicing
    Frida Jonsson, Ida Maria Westin, Lennart Österman, Ola Sandgren, Marie S. I. Burstedt, Monica Holmberg, Irina Golovleva · 2018 · Acta Ophthalmologica
  4. Exome sequencing study of 20 patients with high myopia
    Ling Wan, Boling Deng, Zhengzheng Wu, Xiaoming Chen · 2018 · PeerJ
  5. A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
    Beau 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
  6. Imaging Lenticular Autofluorescence in Older Subjects
    Jason 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
  7. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene
    Panagiotis 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
  8. Distinct mouse models of Stargardt disease display differences in pharmacological targeting of ceramides and inflammatory responses
    Zachary 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
  9. Longitudinal Changes in Scotopic and Mesopic Macular Function as Assessed with Microperimetry in Patients With Stargardt Disease: SMART Study Report No. 2
    Xiangrong 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
  10. Bilateral Symmetry of Visual Function Loss in Cone–Rod Dystrophies
    Lucia 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
  11. VISUAL ACUITY IN PATIENTS WITH STARGARDT DISEASE AFTER AGE 40
    Frederick T. Collison, Gerald Allen Fishman · 2017 · Retina
  12. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology
    Linghui Qu, Xin Jin, Haiwei Xu, Shiying Li, Zhengqin Yin · 2014 · Molecular Genetics and Genomics
  13. Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype–Phenotype Correlation
    Mariana 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
  14. Stargardt Disease: towards developing a model to predict phenotype
    Laura Jane Heathfield, Miguel Lacerda, Christel Nossek, Lisa J. Roberts, Raj Ramesar · 2013 · European Journal of Human Genetics
  15. Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles
    Smaragda 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
  16. Macular Dystrophies
    Elliott H. Sohn, Robert F. Mullins, Edwin M. Stone · 2012 · Elsevier eBooks
  17. Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
    Rando L. Allikmets, Jana Zernant, Winston Lee · 2018 · Investigative Ophthalmology & Visual Science
  18. Different Phenotypes Represent Advancing Stages of ABCA4 -Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center
    Yingwei 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
  19. Retinal light sensitivity as outcome measure in recessive Stargardt disease
    Maximilian Pfau, Frank Gerhard Holz, Philipp L. Müller · 2020 · British Journal of Ophthalmology
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    Xue Du, Anna G. Butler, Holly Y. Chen · 2024 · Frontiers in Cell and Developmental Biology
  21. 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
  22. Inherited Retinal Degenerations
    Airaj F. Fasiuddin · 2010 · International Ophthalmology Clinics
  23. 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
  24. FUNDUS AUTOFLUORESCENCE, OPTICAL COHERENCE TOMOGRAPHY, AND ELECTRORETINOGRAM FINDINGS IN CHOROIDAL SCLEROSIS
    John Chopin Hwang, David Y. Kim, Chai Lin Chou, Stephen H. Tsang · 2010 · Retina
  25. Optical coherence tomography angiography in the diagnosis of ocular disease
    Michael Kalloniatis, Henrietta Wang, Jack Phu, Janelle Tong, James Andrew Armitage · 2024 · Clinical and Experimental Optometry
  26. A polymorphic marker associated with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China
    Na Mi, Yanru Hao, Xiaohui Jiao, Xudong Zheng, Jinna Shi, Yongjie Chen · 2014 · Archives of Oral Biology
  27. 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
  28. Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates
    Maximilian 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
  29. ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype
    Yingwei 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
  30. Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomography
    S. 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
  31. Visual Cortex Activation in Patients With Stargardt Disease
    Paolo 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
  32. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases
    Srilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A. Gadkari, Ashraf ul Mannan, Nagasamy Soumittra · 2016 · Journal of Human Genetics
  33. Genotype–Phenotype Association in ABCA4-Associated Retinopathy
    Maximilian 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
  34. Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease
    Marta 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
  35. Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry
    Arun K. Krishnan, Alejandro J. Román, Małgorzata Świder, Samuel G. Jacobson, Artur V. Cideciyan · 2021 · Translational Vision Science & Technology
  36. Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus
    Julien Fars, Francesca Pasutto, Jan Kremers, Cord R. Huchzermeyer · 2021 · Investigative Ophthalmology & Visual Science
  37. Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis
    Mohammad Moslem Imani, Masoud Sadeghi, Santosh Kumar Tadakamadla, Annette Beatrix Brühl, Dena Sadeghi Bahmani, Mohammad Naser Taheri, Serge Brand · 2021 · Life
  38. Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5
    Randa 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
  39. Clinical Trials of GMP Products in the Gene Therapy Field
    Kathleen B. Bamford · 2011 · Methods in molecular biology
  40. Extending the spectrum of CLRN1‐ and ABCA4‐associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing
    Mohammed 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
  41. Inherited retinal diseases in patients with ABCA4 gene mutations
    Natalia L. Sheremet, И.Г. Грушкэ, Nino V. Zhorzholadze, Alexander S. Tanas, V. V. Strelnikov · 2018 · Russian Annals of Ophthalmology
  42. Compendium of clinical variant classification for 2,247 unique ABCA4 variants to improve genetic medicine access for Stargardt Disease
    Stéphanie 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
  43. Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies
    Lasse 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
  44. Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study
    Sandy 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
  45. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease
    Linghui Qu, Xin Jin, Chao Zeng, Nian-gou Zhou, Yanhong Liu, Lin Ye · 2021 · Bioscience Reports
  46. An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank
    Mark 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
  47. Local progression kinetics of macular atrophy in recessive Stargardt disease
    Benjamin K. Young, Peter Y. Zhao, Liangbo Linus Shen, Abigail T. Fahim, Thiran Jayasundera · 2023 · Ophthalmic Genetics
  48. Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies
    Barbara Zangerl, S. J. Lindauer, Gregory M. Acland, Geoffrey K. Aguirre · 2010 · Molecular Genetics and Genomics
  49. Gene Therapy for Blinding Pediatric Eye Disorders
    Alina V. Dumitrescu, Arlene V. Drack · 2015 · Advances in Pediatrics
  50. Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome
    Xiujie 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
  51. Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations
    Alexander Sumaroka, Małgorzata Świder, Tomás S. Alemán, Artur V. Cideciyan · 2025 · Translational Vision Science & Technology
  52. Pesquisa translacional na oftalmologia: o caminho para a medicina personalizada
    Rubens Camargo Siqueira · 2012 · Revista Brasileira de Oftalmologia
  53. Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotyping
    Yousif J. Shwetar, Brian P. Brooks, Brett G. Jeffrey, Benjamin D. Solomon, Melissa Anne Haendel · 2025 · International Ophthalmology
  54. Translational research in retinology
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  55. Stargardt Disease: Gene Therapy Strategies for ABCA4
    Cristy A. Ku, Paul G Yang · 2021 · International Ophthalmology Clinics
  56. Multidimensional Functional Phenotyping Based on Photoreceptor-Directed Temporal Contrast Sensitivity Defects in Inherited Retinal Diseases
    Cord R. Huchzermeyer, Katarína Štingl, Jan Kremers · 2025 · Investigative Ophthalmology & Visual Science
  57. Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity
    Domenico 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
  58. Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease
    Jeroen 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
  59. Inherited retinal degenerations: clinical phenotypes and emerging therapies
    Katherine E. Uyhazi, Erin C. O'Neil, Tomás S. Alemán, Artur V. Cideciyan · 2026 · The Lancet
  60. Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trials
    Nuno Filipe Aguiar Silva · 2010 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
  61. Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients
    Ensieh Darbari, Hamid Ahmadieh, Narsis Daftarian, Mozhgan Rezaei Kanavi, Fatemeh Suri, Elahe Elahi · 2022 · Journal of Ophthalmic and Vision Research
  62. Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies
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    David A. Camp, Michael C. Gemayel, Thomas A. Ciulla · 2021 · Expert Opinion on Orphan Drugs
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    Melita 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)
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  68. Pathogenic Mechanisms Underlying Stargardt Macular Degeneration Linked to Mutations in the Transmembrane Domains of ABCA4
    Fabian A. Garces, Jéssica Fernandes Scortecci, Robert S. Molday · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
  69. Polymorphisms of ATP-binding cassette, sub-family A, member 4 (rs560426 and rs481931) and non-syndromic cleft lip/palate: A systematic review and meta-analysis
    Mohammad Moslem Imani, Mohsen Safaei, Pía López‐Jornet, Eduardo Pons-Fuster, Masoud Sadeghi · 2019
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    S. Scott Whitmore, D. Brice Critser, Edwin M. Stone, Ian C. Han · 2025 · Ophthalmic Genetics
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  83. Tracking Systemic and Ocular Vitamin A
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  85. Morbus Stargardt (ABCA4-assoziierte Retinopathie): Überblick zu Klinik, Klassifikation und Differenzialdiagnosen
    Sophia Dithmar, Theresa Lipsky, Edward Schargel-Cabezon, Johannes Birtel, Carel C B Hoyng, Peter Charbel Issa, Ulrich Kellner, Štingl Katarina, Frank Gerhard Holz, Kristina Pfau et al. · 2026 · Die Ophthalmologie
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