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

doi:10.1093/hmg/ddn421

Cited by 186Retinal Development and DisordersRetinal Diseases and TreatmentsLysosomal Storage Disorders Research

ABCA4 disease progression and a proposed strategy for gene therapy

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Cideciyan, Artur V., Swider, Malgorzata, Aleman, Tomas S., Tsybovsky, Yaroslav, Schwartz, Sharon B., Windsor, Elizabeth A.M., Roman, Alejandro J., Sumaroka, Alexander +4 more·2009·Human Molecular Genetics

DOI 10.1093/hmg/ddn421PMC PMC2640207

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Abstract

Autosomal recessive retinal diseases caused by mutations in the ABCA4 gene are being considered for gene replacement therapy. All individuals with ABCA4-disease show macular degeneration, but only some are thought to progress to retina-wide blindness. It is currently not predictable if or when specific ABCA4 genotypes will show extramacular disease, and how fast it will progress thereafter. Early clinical trials of focal subretinal gene therapy will aim to arrest disease progression in the extramacular retina. In 66 individuals with known disease-causing ABCA4 alleles, we defined retina-wide disease expression by measuring rod- and cone-photoreceptor-mediated vision. Serial measurements over a mean period of 8.7 years were consistent with a model wherein a normal plateau phase of variable length was followed by initiation of retina-wide disease that progressed exponentially. Once initiated, the mean rate of disease progression was 1.1 log/decade for rods and 0.45 log/decade for cones. Spatio-temporal progression of disease could be described as the sum of two components, one with a central-to-peripheral gradient and the other with a uniform retina-wide pattern. Estimates of the age of disease initiation were used as a severity metric and contributions made by each ABCA4 allele were predicted. One-third of the non-truncating alleles were found to cause more severe disease than premature truncations supporting the existence of a pathogenic component beyond simple loss of function. Genotype-based inclusion/exclusion criteria and prediction of the age of retina-wide disease initiation will be invaluable for selecting appropriate candidates for clinical trials in ABCA4 disease.

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Lack of a functional ABCA4 transporter causes Stargardt disease, a juvenile form of macular degeneration, whereas some other changes are associated with AMD.
“Here, lack of a functional transporter causes Stargardt disease,545,558,559 a juvenial form of macular degeneration, whereas some other changes were demonstrated to be associated with AMD.560,561”
From Chemistry of the Retinoid (Visual) Cycle (2014) · cites this paper as [558]
The Discussion links ABCA4 mutations to Stargardt disease (STGD), but describes a spectrum of disease rather than saying that complete loss of transporter function specifically causes STGD. It associates likely complete loss of function with some of the more severe retinal disease and notes that STGD can progress beyond the macula. The AMD clause has separate citations in the citing sentence, so it is not attributed to this source. (LLM, conf=0.84)
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Itabashi, R., Katsumi, O., Mehta, M. C., Wajimal, R., Tamai, M., & Hirose, T. (1993) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/bf00936518 · Cited by 27 · see citing works
Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family
Simonelli, F., Testa, F., Zernant, J., Nesti, A., Rossi, S., Rinaldi, E., & Allikmets, R. L. (2004) · Ophthalmic Research · doi:10.1159/000076886 · Cited by 26 · see citing works
Heterogeneous cellular environments modulate one-hit neuronal death kinetics
Clarke, G. D., & Lumsden, C. J. (2004) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2004.11.009 · Cited by 20 · see citing works
Recovery of Rod Photoresponses in ABCR-Deficient Mice
Pawar, A. S., Qtaishat, N. M., Little, D. M., & Pepperberg, D. R. (2008) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-1499 · Cited by 19 · see citing works
Homozygous Null Mutations in the ABCA4 Gene in Two Families With Autosomal Recessive Retinal Dystrophy
Singh, H. P., Jalali, S., Hejtmancik, J. F., & Kannabiran, C. (2006) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.12.009 · Cited by 19 · see citing works
Functional Analysis of Genetic Mutations in Nucleotide Binding Domain 2 of the Human Retina Specific ABC Transporter
Biswas, E. E. (2003) · Biochemistry · doi:10.1021/bi034481l · Cited by 18 · see citing works
LEGAL BLINDNESS AND EMPLOYMENT IN PATIENTS WITH JUVENILE-ONSET MACULAR DYSTROPHIES OR ACHROMATOPSIA
Szlyk, J. P., Fishman, G. A., ASLAN, R. J., & Grover, S. (1998) · Retina · doi:10.1097/00006982-199807000-00012 · Cited by 7 · see citing works
Null ABCA4 Gene Mutations Found in Japanese Patients with Panretinal Degeneration
Fukui, T., Fujikado, T., Tsujikawa, M., Okada, M., Yamamoto, S., & Tano, Y. (2006) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-005-0279-8 · Cited by 1 · see citing works

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Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
Cideciyan, A. V., Jacobson, S. G., Beltran, W. A., Sumaroka, A., Świder, M., Iwabe, S., Román, A. J., Olivares, M. B., Schwartz, S., Komáromy, A. M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1218933110 · Cited by 441 · see citing works
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The bisretinoids of retinal pigment epithelium
Sparrow, J. R., Gregory-Roberts, E., Yamamoto, K., Blonska, A., Ghosh, S. K., Ueda, K., & Zhou, J. (2012) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2011.12.001 · Cited by 392 · see citing works
Chemistry of the Retinoid (Visual) Cycle
Kiser, P. D., Golczak, M., & Palczewski, K. (2014) · Chemical Reviews · doi:10.1021/cr400107q · Cited by 353 · see citing works
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Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations
Sakami, S., Maeda, T., Bereta, G. P., Okano, K., Golczak, M., Sumaroka, A., Román, A. J., Cideciyan, A. V., Jacobson, S. G., & Palczewski, K. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.209759 · Cited by 283 · see citing works
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Diagnostic and Therapeutic Challenges
Sadiq, M. A., Loh, G. K., Sepah, Y. J., Nguyen, Q. D., & Lin, P. (2014) · Retina · doi:10.1097/iae.0000000000000275 · Cited by 217 · see citing works
The ATP-Binding Cassette Transporter ABCA4: Structural and Functional Properties and Role in Retinal Disease
Tsybovsky, Y., Molday, R. S., & Palczewski, K. (2010) · Advances in Experimental Medicine and Biology · doi:10.1007/978-1-4419-5635-4_8 · Cited by 200 · see citing works
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Phospholipid meets all-trans-retinal: the making of RPE bisretinoids
Sparrow, J. R., Wu, Y., Kim, C. Y., & Zhou, J. (2010) · Journal of Lipid Research · doi:10.1194/jlr.r000687 · Cited by 193 · see citing works
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Zernant, J., Lee, W., Collison, F. T., Fishman, G. A., Sergeev, Y. V., Schuerch, K., Sparrow, J. R., Tsang, S. H., & Allikmets, R. L. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2017-104540 · Cited by 185 · see citing works
Quantitative Fundus Autofluorescence in Recessive Stargardt Disease
Burke, T. R., Duncker, T., Woods, R. L., Greenberg, J. P., Zernant, J., Tsang, S. H., Smith, R. T., Allikmets, R. L., Sparrow, J. R., & Delori, F. C. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13624 · Cited by 183 · see citing works
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
Molday, R. S., Zhong, M., & Quazi, F. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2009.02.004 · Cited by 182 · see citing works
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Braun, T. A., Mullins, R. F., Wagner, A. H., Andorf, J. L., Johnston, R. M., Bakall, B., DeLuca, A. P., Fishman, G. A., Lam, B. L., Weleber, R. G., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt367 · Cited by 178 · see citing works
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Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100827 · Cited by 173 · see citing works
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The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies
Strauss, R. W., Ho, A., Muñoz, B. E., Cideciyan, A. V., Sahel, J., Sunness, J. S., Birch, D. G., Bernstein, P. S., Michaelides, M., Traboulsi, E. I., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.12.009 · Cited by 168 · see citing works
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Fundus-controlled perimetry (microperimetry): Application as outcome measure in clinical trials
Pfau, M., Jolly, J. K., Wu, Z., Denniss, J., Lad, E. M., Guymer, R. H., Fleckenstein, M., Holz, F. G., & Schmitz-Valckenberg, S. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100907 · Cited by 158 · see citing works
Early-Onset Stargardt Disease
Lambertus, S., van Huet, R. A. C., Bax, N. M., Hoefsloot, L. H., Cremers, F. P. M., Boon, C. J. F., Klevering, B. J., & Hoyng, C. B. (2014) · Ophthalmology · doi:10.1016/j.ophtha.2014.08.032 · Cited by 156 · see citing works
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs
Schulz, H. L., Graßmann, F., Kellner, U., Spital, G., Rüther, K., Jägle, H., Hufendiek, K., Rating, P., Huchzermeyer, C. R., Baier, M. J., et al. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19936 · Cited by 133 · see citing works
Fundus Autofluorescence in the Abca4 −/− Mouse Model of Stargardt Disease—Correlation With Accumulation of A2E, Retinal Function, and Histology
Issa, P. C., Barnard, A. R., Singh, M. S., Carter, E., Jiang, Z., Radu, R. A., Schraermeyer, U., & MacLaren, R. E. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-11688 · Cited by 128 · see citing works
Macular Function in Macular Degenerations: Repeatability of Microperimetry as a Potential Outcome Measure for ABCA4 -Associated Retinopathy Trials
Cideciyan, A. V., Świder, M., Alemán, T. S., Feuer, W. J., Schwartz, S., Russell, R. C., Steinberg, J. D., Stone, E. M., & Jacobson, S. G. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8415 · Cited by 119 · see citing works
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Cone Photoreceptor Abnormalities Correlate with Vision Loss in Patients with Stargardt Disease
Chen, Y., Ratnam, K., Sundquist, S. M., Lujan, B. J., Ayyagari, R., Gudiseva, V. H., Roorda, A., & Duncan, J. L. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6538 · Cited by 115 · see citing works
Retinoids and Retinal Diseases
Kiser, P. D., & Palczewski, K. (2016) · Annual Review of Vision Science · doi:10.1146/annurev-vision-111815-114407 · Cited by 108 · see citing works
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Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations
Zhang, N., Tsybovsky, Y., Kolesnikov, A. V., Rôżanowska, M., Świder, M., Schwartz, S., Stone, E. M., Palczewska, G., Maeda, A., Kefalov, V. J., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv073 · Cited by 98 · see citing works
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CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy with Inner Retinopathy
Alemán, T. S., Soumittra, N., Cideciyan, A. V., Sumaroka, A., Ramprasad, V. L., Herrera, W., Windsor, E. A. M., Schwartz, S., Russell, R. C., Román, A. J., et al. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-3982 · Cited by 92 · see citing works
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Allelic and phenotypic heterogeneity inABCA4mutations
Burke, T. R., & Tsang, S. H. (2011) · Ophthalmic Genetics · doi:10.3109/13816810.2011.565397 · Cited by 91 · see citing works
Successful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease
Beltran, W. A., Cideciyan, A. V., Iwabe, S., Świder, M., Kosyk, M. S., McDaid, K. S., Martynyuk, I., Ying, G., Shaffer, J., Deng, W., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1509914112 · Cited by 90 · see citing works
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A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in the ABCA4 Gene
Fritsche, L. G., Fleckenstein, M., Fiebig, B. S., Schmitz-Valckenberg, S., Bindewald-Wittich, A., Keilhauer, C. N., Renner, A. B., Mackensen, F., Mößner, A., Pauleikhoff, D., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8785 · Cited by 87 · see citing works
Progression of Vision Loss in Macular Telangiectasia Type 2
Heeren, T. F. C., Clemons, T. E., Scholl, H. P. N., Bird, A. C., Holz, F. G., & Issa, P. C. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-16915 · Cited by 87 · see citing works
Genomics and the Eye
Sheffield, V. C., & Stone, E. M. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1012354 · Cited by 84 · see citing works
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Correlations Among Near-Infrared and Short-Wavelength Autofluorescence and Spectral-Domain Optical Coherence Tomography in Recessive Stargardt Disease
Duncker, T., Marsiglia, M., Lee, W., Zernant, J., Tsang, S. H., Allikmets, R. L., Greenstein, V. C., & Sparrow, J. R. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-14848 · Cited by 84 · see citing works
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration
Molday, R. S., & Zhang, K. (2010) · Progress in Lipid Research · doi:10.1016/j.plipres.2010.07.002 · Cited by 82 · see citing works
“In some instances Stargardt disease can progress to cone-rod dystrophy [53,58].”
Background
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy
Song, H., Rossi, E. A., Latchney, L. R., Bessette, A. P., Stone, E. M., Hunter, J. J., Williams, D. R., & Chung, M. M. (2015) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2015.2443 · Cited by 82 · see citing works
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Systems pharmacology identifies drug targets for Stargardt disease–associated retinal degeneration
Chen, Y., Palczewska, G., Mustafi, D., Golczak, M., Dong, Z., Sawada, O., Maeda, T., Maeda, A., & Palczewski, K. (2013) · Journal of Clinical Investigation · doi:10.1172/jci69076 · Cited by 79 · see citing works
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Lessons learned from quantitative fundus autofluorescence
Sparrow, J. R., Duncker, T., Schuerch, K., Paavo, M., & de Carvalho, J. R. L. (2019) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100774 · Cited by 75 · see citing works
Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
Riveiro-Álvarez, R., López-Martínez, M.-Á., Zernant, J., Aguirre-Lambán, J., Cantalapiedra, D., Ávila‐Fernández, A., Giménez, A., López-Molina, M.-I., García‐Sandoval, B., Blanco‐Kelly, F., et al. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2013.04.002 · Cited by 74 · see citing works
Visual Function and Central Retinal Structure in Choroideremia
Héon, E., Alabduljalil, T., McGuigan, D. B., Cideciyan, A. V., Li, S., Chen, S., & Jacobson, S. G. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-18421 · Cited by 74 · see citing works
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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
Al‐Khuzaei, S., Broadgate, S., Foster, C. R., Shah, M., Yu, J., Downes, S. M., & Halford, S. (2021) · Genes · doi:10.3390/genes12081241 · Cited by 73 · see citing works
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
Garces, F. A., Jiang, K., Molday, L. L., Stöhr, H., Weber, B. H. F., Lyons, C. J., Maberley, D., & Molday, R. S. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-23364 · Cited by 68 · see citing works
RPGR- Associated Retinal Degeneration in Human X-Linked RP and a Murine Model
Huang, W. C., Wright, A. F., Román, A. J., Cideciyan, A. V., Manson, F. D. C., Gewaily, D. Y., Schwartz, S., Sadigh, S., Limberis, M. P., Bell, P. L., et al. (2012) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-10070 · Cited by 65 · see citing works
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ABCA4 and ROM1: Implications for Modification of the PRPH2 -Associated Macular Dystrophy Phenotype
Poloschek, C. M., Bach, M., Lagrèze, W. A., Glaus, E., Lemke, J. R., Berger, W., & Neidhardt, J. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4655 · Cited by 64 · see citing works
Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations
Huang, W. C., Cideciyan, A. V., Román, A. J., Sumaroka, A., Sheplock, R., Schwartz, S., Stone, E. M., & Jacobson, S. G. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-13768 · Cited by 58 · see citing works
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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
de Castro‐Miró, M., Tonda, R., Escudero-Ferruz, P., Andrés, R. M., Mayor-Lorenzo, A., Castro, J., Ciccioli, M., Hidalgo, D. A., Rodríguez-Ezcurra, J. J., Farrando, J., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0168966 · Cited by 58 · see citing works
Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy
Davidson, A. E., Millar, I. D., Burgess, R., Maher, G. J., Urquhart, J. E., Brown, P. D. N., Black, G. C. M., & Manson, F. D. C. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-6707 · Cited by 57 · see citing works
Task-Dependent V1 Responses in Human Retinitis Pigmentosa
Masuda, Y., Horiguchi, H., Dumoulin, S. O., Furuta, A., Miyauchi, S., Nakadomari, S., & Wandell, B. A. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.09-4775 · Cited by 56 · see citing works
Stargardt disease and progress in therapeutic strategies
Huang, D., Jeffery, R. C. H., Aung-Htut, M. T., McLenachan, S., Fletcher, S., Wilton, S. D., & Chen, F. K. (2021) · Ophthalmic Genetics · doi:10.1080/13816810.2021.1966053 · Cited by 56 · see citing works
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes
Lee, W., Zernant, J., Su, P.-Y., Nagasaki, T., Tsang, S. H., & Allikmets, R. L. (2021) · JCI Insight · doi:10.1172/jci.insight.156154 · Cited by 55 · see citing works
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
Cornelis, S. S., Runhart, E. H., Bauwens, M., Corradi, Z., Baere, E. D., Roosing, S., Haer‐Wigman, L., Dhaenens, C., Silfhout, A. T. V., & Cremers, F. P. M. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.01.008 · Cited by 55 · see citing works
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
McGuigan, D. B., Héon, E., Cideciyan, A. V., Ratnapriya, R., Lu, M., Sumaroka, A., Román, A. J., Batmanabane, V., Garafalo, A. V., Stone, E. M., et al. (2017) · Genes · doi:10.3390/genes8070178 · Cited by 55 · see citing works
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Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease
Kubota, R., Birch, D. G., Gregory, J. K., & Koester, J. M. (2020) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2020-317712 · Cited by 53 · see citing works
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4
Fakin, A., Robson, A. G., Fujinami, K., Moore, A. T., Michaelides, M., Chiang, J., Holder, G. E., & Webster, A. R. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19829 · Cited by 52 · see citing works
Age-related macular degeneration: genetic and clinical findings
Kokotas, H., Grigoriadou, M., & Petersen, M. B. (2010) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2011.091 · Cited by 52 · see citing works
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration
Molday, L. L., Wahl, D. J., Šarunic, M. V., & Molday, R. S. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx400 · Cited by 48 · see citing works
Predicting Progression of ABCA4 -Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front
Cideciyan, A. V., Świder, M., Schwartz, S., Stone, E. M., & Jacobson, S. G. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-17698 · Cited by 47 · see citing works
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The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients
Fakin, A., Robson, A. G., Chiang, J., Fujinami, K., Moore, A. T., Michaelides, M., Holder, G. E., & Webster, A. R. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20446 · Cited by 47 · see citing works
Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives
Sun, H. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.06.010 · Cited by 46 · see citing works
Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene
Stone, E. M., Luo, X., Héon, E., Lam, B. L., Weleber, R. G., Halder, J. A., Affatigato, L. M., Goldberg, J. B., Sumaroka, A., Schwartz, S., et al. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8527 · Cited by 46 · see citing works
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Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
Piccardi, M., Fadda, A., Martelli, F., Marangoni, D., Magli, A., Minnella, A. M., Bertelli, M., Marco, S. D., Bisti, S., & Falsini, B. (2019) · Nutrients · doi:10.3390/nu11102461 · Cited by 46 · see citing works
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Chacon-Camacho, O. F., Granillo-Alvarez, M., Ayala-Ramírez, R., & Zenteno, J. C. (2013) · Experimental Eye Research · doi:10.1016/j.exer.2013.02.006 · Cited by 44 · see citing works
Characterization of Stargardt Disease Using Polarization-Sensitive Optical Coherence Tomography and Fundus Autofluorescence Imaging
Ritter, M., Zotter, S., Schmidt, W. M., Bittner, R. E., Deák, G. G., Pircher, M., Sacu, S., Hitzenberger, C. K. F., & Schmidt-Erfurth, U. M. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.12-11550 · Cited by 44 · see citing works
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C
Kaltak, M., de Bruijn, P., Piccolo, D., Lee, S.-E., Dulla, K., Hoogenboezem, T., Beumer, W., Webster, A. R., Collin, R. W. J., Cheetham, M. E., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.02.020 · Cited by 43 · see citing works
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss
Bonafede, L., Ficicioglu, C. H., Serrano, L. W., Han, G., Morgan, J. I. W., Mills, M. D., Forbes, B. J., Davidson, S. L., Binenbaum, G., Kaplan, P. B., et al. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-17857 · Cited by 43 · see citing works
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent
Lee, W., Schuerch, K., Zernant, J., Collison, F. T., Bearelly, S., Fishman, G. A., Tsang, S. H., Sparrow, J. R., & Allikmets, R. L. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.13 · Cited by 41 · see citing works
Posttranslational Modifications of the Photoreceptor-Specific ABC Transporter ABCA4
Tsybovsky, Y., Wang, B., Quazi, F., Molday, R. S., & Palczewski, K. (2011) · Biochemistry · doi:10.1021/bi200774w · Cited by 39 · see citing works
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Clinical Stages of Occult Macular Dystrophy Based on Optical Coherence Tomographic Findings
Nakamura, N., Tsunoda, K., Mizuno, Y., Usui, T., Hatase, T., Ueno, S., Kuniyoshi, K., Hayashi, T., Katagiri, S., Kondo, M., et al. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.19-27486 · Cited by 39 · see citing works
Further evidence of association of the ABCA 4gene with cleft lip/palate
da Fontoura, C. S. G., Silva, R. M., Granjeiro, J. M., & Letra, A. (2012) · European Journal Of Oral Sciences · doi:10.1111/eos.12001 · Cited by 38 · see citing works
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease
Lindner, M., Lambertus, S., Mauschitz, M. M., Bax, N. M., Kersten, E., Lüning, A., Nadal, J., Schmitz-Valckenberg, S., Schmid, M. C., Holz, F. G., et al. (2017) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-20980 · Cited by 38 · see citing works
Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4
Kong, X., West, S. K., Strauss, R. W., Muñoz, B. E., Cideciyan, A. V., Michaelides, M., Ho, A., Ahmed, M., Schönbach, E. M., Cheetham, J. K., et al. (2017) · Ophthalmology Retina · doi:10.1016/j.oret.2017.02.008 · Cited by 37 · see citing works
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Two-photon imaging of the mammalian retina with ultrafast pulsing laser
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\nRetinal dystrophies caused by mutations in the ABCA4 gene. An evaluation of the clinical spectrum.
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The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
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Predicting Abca4 Disease Progression: A Strategy for Gene Therapy
Cideciyan, A. V., Świder, M., Aleman, T. S., Tsybovsky, Y., Schwartz, S., Windsor, E. A. M., Sumaroka, A., Jacobson, S. G., Stone, E. M., & Palczewski, K. (2009) · Investigative Ophthalmology & Visual Science
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Authors: Cideciyan, A. V., Swider, M., Aleman, T. S., Tsybovsky, Y., Schwartz, S. B., Windsor, E. A. M., Roman, A. J., Sumaroka, A., Steinberg, J. D., Jacobson, S. G., Stone, E. M., & Palczewski, K.
Affiliations: University of Pennsylvania (US)
Case Western Reserve University (US)
Howard Hughes Medical Institute (US)
Corresponding author: Cideciyan, Artur V.
ORCID: Cideciyan, Artur V.
Tsybovsky, Yaroslav
Schwartz, Sharon B.
Jacobson, Samuel G.
Stone, Edwin M.
Palczewski, Krzysztof
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2008-12-12
Volume: 18
Issue: 5
Pages: 931-941
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddn421
PMC: PMC2640207
OpenAlex: W2164929411
Cited by: 186
References: 87
Citations by year: 2026: 5 · 2025: 11 · 2024: 6 · 2023: 11 · 2022: 8 · 2021: 13 · 2020: 9 · 2019: 8 · 2018: 18 · 2017: 14 · 2016: 9 · 2015: 11 · 2014: 13 · 2013: 13 · 2012: 9
FWCI: 3.84
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Human Molecular Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
HighWire Press Open Archive (submittedVersion)
Funders: Research to Prevent Blindness
Macula Vision Research Foundation
Hope For Vision
National Institutes of Health (EY09339)
National Eye Institute (EY-13203, EY 09339, R01EY013203, R01EY009339)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Keywords: ABCA4, autosomal recessive retinal degeneration, macular degeneration, disease progression, gene replacement therapy, subretinal gene therapy, photoreceptors, rod photoreceptors, cone photoreceptors, genotype severity
MeSH terms: Adolescent, Adult, Aged, Child, Female, Genotype, Humans, Male, Middle Aged, Mutation, Pedigree, Retinal Diseases, Genetic Therapy, Cohort Studies, Age of Onset, Disease Progression, ATP-Binding Cassette Transporters, Young Adult

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ABCA4 disease progression and a proposed strategy for gene therapy

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