Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., … Lupski, J. R. (1997). A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics, 15(3), 236–246.
Charbel Issa, P., Barnard, A. R., Herrmann, P., Washington, I., & MacLaren, R. E. (2015). Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization. Proceedings of the National Academy of Sciences of the United States of America, 112(27), 8415–8420.
Chen, Y., Okano, K., Maeda, T., Chauhan, V., Golczak, M., Maeda, A., & Palczewski, K. (2012). Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration. The Journal of Biological Chemistry, 287(7), 5059–5069.
Cremers, F. P. M., Lee, W., Collin, R. W. J., & Allikmets, R. (2020). Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations. Progress in Retinal and Eye Research, 100861. https://doi.org/10.1016/j.preteyeres.2020.100861.
Dan, H., Huang, X., Xing, Y., & Shen, Y. (2019). Application of targeted exome and whole-exome sequencing for Chinese families with Stargardt disease. Annals of Human Genetics, 84(2), 177–184.
Fujinami, K., Akahori, M., Fukui, M., Tsunoda, K., Iwata, T., & Miyake, Y. (2011). Stargardt disease with preserved central vision: Identification of a putative novel mutation in ATP-binding cassette transporter gene. Acta Ophthalmologica, 89(3), e297–e298.
Fujinami, K., Lois, N., Davidson, A. E., Mackay, D. S., Hogg, C. R., Stone, E. M., … Michaelides, M. (2013). A longitudinal study of stargardt disease: Clinical and electrophysiologic assessment, progression, and genotype correlations. American Journal of Ophthalmology, 155(6), 1075–1088 e1013.
Fujinami, K., Lois, N., Mukherjee, R., McBain, V. A., Tsunoda, K., Tsubota, K., … Michaelides, M. (2013). A longitudinal study of Stargardt disease: Quantitative assessment of fundus autofluorescence, progression, and genotype correlations. Investigative Ophthalmology & Visual Science, 54(13), 8181–8190.
Fujinami, K., Sergouniotis, P. I., Davidson, A. E., Mackay, D. S., Tsunoda, K., Tsubota, K., … Webster, A. R. (2013). The clinical effect of homozygous ABCA4 alleles in 18 patients. Ophthalmology, 120(11), 2324–2331.
Fujinami, K., Sergouniotis, P. I., Davidson, A. E., Wright, G., Chana, R. K., Tsunoda, K., … Webster, A. R. (2013). Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function. American Journal of Ophthalmology, 156(3), 487–501 e481.
Fujinami, K., Singh, R., Carroll, J., Zernant, J., Allikmets, R., Michaelides, M., & Moore, A. T. (2014). Fine central macular dots associated with childhood-onset Stargardt disease. Acta Ophthalmologica, 92(2), e157–e159.
Fujinami, K., Strauss, R. W., Chiang, J. P., Audo, I. S., Bernstein, P. S., Birch, D. G., … ProgStar Study, G. (2019). Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. The British Journal of Ophthalmology, 103(3), 390–397.
Fujinami, K., Zernant, J., Chana, R. K., Wright, G. A., Tsunoda, K., Ozawa, Y., … Moore, A. T. (2015). Clinical and molecular characteristics of childhood-onset Stargardt disease. Ophthalmology, 122(2), 326–334.
Fujinami, K., Zernant, J., Chana, R. K., Wright, G. A., Tsunoda, K., Ozawa, Y., … Michaelides, M. (2013). ABCA4 gene screening by nextgeneration sequencing in a British cohort. Investigative Ophthalmology & Visual Science, 54(10), 6662–6674.
Fujinami-Yokokawa, Y., Pontikos, N., Yang, L., Tsunoda, K., Yoshitake, K., Iwata, T., … Fujinami, K. (2019). Japan eye genetics consortium OBO. 2019. Prediction of causative genes in inherited retinal disorders from spectral-domain optical coherence tomography utilizing deep learning techniques. Journal of Ophthalmology, 2019, 1691064.
Georgiou, M., Kane, T., Tanna, P., Bouzia, Z., Singh, N., Kalitzeos, A., … Michaelides, M. (2020). Prospective cohort Study of childhood-onset Stargardt disease: Fundus autofluorescence imaging, progression, comparison with adult-onset disease, and disease symmetry. American Journal of Ophthalmology, 211, 159–175.
Gill, J. S., Georgiou, M., Kalitzeos, A., Moore, A. T., & Michaelides, M. (2019). Progressive cone and cone-rod dystrophies: Clinical features, molecular genetics and prospects for therapy. The British Journal of Ophthalmology, 103, 711–720.
Hood, D. C., Bach, M., Brigell, M., Keating, D., Kondo, M., Lyons, J. S., … International Society For Clinical Electrophysiology of V. (2012). ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Documenta Ophthalmologica, 124(1), 1–13.
Hu, F.-Y., J-k, L., Gao, F.-J., Qi, Y.-H., & Wu, J.-H. (2019). ABCA4 gene screening in a Chinese cohort with Stargardt disease: Identification of 37 novel variants. Frontiers in Genetics, 10, 773–773.
Hussain, R. M., Ciulla, T. A., Berrocal, A. M., Gregori, N. Z., Flynn, H. W., Jr., & Lam, B. L. (2018). Stargardt macular dystrophy and evolving therapies. Expert Opinion on Biological Therapy, 18(10), 1049–1059.
Hussain, R. M., Gregori, N. Z., Ciulla, T. A., & Lam, B. L. (2018). Pharmacotherapy of retinal disease with visual cycle modulators. Expert Opinion on Pharmacotherapy, 19(5), 471–481.
Jana, Z., Xie, Y., Carmen, A., Rosa, R. A., Miguel-Angel, L. M., Francesca, S., … Mette, B. (2014). Analysis of the ABCA4 genomic locus in Stargardt disease. Human Molecular Genetics, 23(25), 6797.
Jiang, F., Pan, Z., Xu, K., Tian, L., & Li, Y. (2016). Screening of ABCA4 gene in a Chinese cohort with Stargardt disease or cone-rod dystrophy with a report on 85 novel mutations. Investigative Ophthalmology & Visual Science, 57(1), 145–152.
K S. (1909). Über familiäre, progressive Degeneration in der Maculagegend des Auges. Graefe's Archive for Clinical and Experimental Ophthalmology, 71, 534–550.
Khan, K. N., Kasilian, M., Mahroo, O. A. R., Tanna, P., Kalitzeos, A., Robson, A. G., … Michaelides, M. (2018). Early patterns of macular degeneration in ABCA4-associated retinopathy. Ophthalmology, 125 (5), 735–746.
Kong, X., Fujinami, K., Strauss, R. W., Munoz, B., West, S. K., Cideciyan, A. V., … ProgStar Study, G. (2018). Visual acuity change over 24 months and its association with foveal phenotype and genotype in individuals with Stargardt disease: ProgStar Study report no. 10. JAMA Ophthalmology, 136(8), 920–928.
Kong, X., Strauss, R. W., Michaelides, M., Cideciyan, A. V., Sahel, J. A., Munoz, B., … ProgStar, S. G. (2016). Visual acuity loss and associated risk factors in the retrospective progression of Stargardt disease Study (ProgStar report no. 2). Ophthalmology, 123(9), 1887–1897.
Kubota, R., Boman, N. L., David, R., Mallikaarjun, S., Patil, S., & Birch, D. (2012). Safety and effect on rod function of ACU-4429, a novel smallmolecule visual cycle modulator. Retina, 32(1), 183–188.
Kubota, R., Calkins, D. J., Henry, S. H., & Linsenmeier, R. A. (2019). Emixustat reduces metabolic demand of dark activity in the retina. Investigative Ophthalmology & Visual Science, 60(14), 4924–4930.
Lange, C., Feltgen, N., Junker, B., Schulze-Bonsel, K., & Bach, M. (2009). Resolving the clinical acuity categories ""hand motion"" and ""counting fingers"" using the Freiburg visual acuity test (FrACT). Graefe's Archive for Clinical and Experimental Ophthalmology, 247(1), 137–142.
Liu, X., Fujinami, Y. Y., Yang, L., Arno, G., & Fujinami, K. (2019). Stargardt disease in Asian population. In Advances in vision research (Vol. II, pp. 279–295). Singapore: Springer.
Lois, N., Holder, G. E., Bunce, C., Fitzke, F. W., & Bird, A. C. (2001). Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Archives of Ophthalmology, 119(3), 359–369.
Maeda, A., Maeda, T., Golczak, M., & Palczewski, K. (2008). Retinopathy in mice induced by disrupted all-trans-retinal clearance. The Journal of Biological Chemistry, 283(39), 26684–26693.
McBain, V. A., Townend, J., & Lois, N. (2012). Progression of retinal pigment epithelial atrophy in stargardt disease. American Journal of Ophthalmology, 154(1), 146–154.
McCulloch, D. L., Marmor, M. F., Brigell, M. G., Hamilton, R., Holder, G. E., Tzekov, R., & Bach, M. (2015a). Erratum to: ISCEV standard for fullfield clinical electroretinography (2015 update). Documenta Ophthalmologica, 131(1), 81–83.
McCulloch, D. L., Marmor, M. F., Brigell, M. G., Hamilton, R., Holder, G. E., Tzekov, R., & Bach, M. (2015b). ISCEV standard for full-field clinical electroretinography (2015 update). Documenta Ophthalmologica, 130(1), 1–12.
Mehat, M. S., Sundaram, V., Ripamonti, C., Robson, A. G., Smith, A. J., Borooah, S., … Bainbridge, J. W. B. (2018). Transplantation of human embryonic stem cell-derived retinal pigment epithelial cells in macular degeneration. Ophthalmology, 125(11), 1765–1775.
Molday, L. L., Rabin, A. R., & Molday, R. S. (2000). ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nature Genetics, 25(3), 257–258.
Molday, R. S. (2015). Insights into the molecular properties of ABCA4 and its role in the visual cycle and Stargardt disease. Progress in Molecular Biology and Translational Science, 134, 415–431.
Molday, R. S., Zhong, M., & Quazi, F. (2009). The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration. Biochimica et Biophysica Acta, 1791(7), 573–583.
Quazi, F., Lenevich, S., & Molday, R. S. (2012). ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nature Communications, 3, 925.
Rahman, N., Georgiou, M., Khan, K. N., & Michaelides, M. (2020). Macular dystrophies: Clinical and imaging features, molecular genetics and therapeutic options. The British Journal of Ophthalmology, 104(4), 451–460.
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Committee, A. L. Q. A. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405–424.
Rosenfeld, P. J., Dugel, P. U., Holz, F. G., Heier, J. S., Pearlman, J. A., Novack, R. L., … Kubota, R. (2018). Emixustat hydrochloride for geographic atrophy secondary to age-related macular degeneration: A randomized clinical trial. Ophthalmology, 125(10), 1556–1567. Sasso, P., Scupola, A., Silvestri, V., Amore, F. M., Abed, E., Calandriello, L., … Caporossi, A. (2017). Morpho-functional analysis of Stargardt disease for reading. Canadian Journal of Ophthalmology, 52(3), 287–294.
Schonbach, E. M., Strauss, R. W., Ibrahim, M. A., Janes, J. L., Birch, D. G., Cideciyan, A. V., … ProgStar study g. (2020). Faster sensitivity loss around dense scotomas than for overall macular sensitivity in Stargardt disease: ProgStar report no. 14. American Journal of Ophthalmology, 216, 219–225.
Schonbach, E. M., Wolfson, Y., Strauss, R. W., Ibrahim, M. A., Kong, X., Munoz, B., … ProgStar Study, G. (2017). Macular sensitivity measured with microperimetry in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study: Report no. 7. JAMA Ophthalmology, 135(7), 696–703.
Schulz, H. L., Grassmann, F., Kellner, U., Spital, G., Ruther, K., Jagle, H., … Stohr, H. (2017). Mutation spectrum of the ABCA4 gene in 335 Stargardt disease patients from a multicenter German cohortimpact of selected deep Intronic variants and common SNPs. Investigative Ophthalmology & Visual Science, 58(1), 394–403.
Schwartz, S. D., Hubschman, J. P., Heilwell, G., Franco-Cardenas, V., Pan, C. K., Ostrick, R. M., … Lanza, R. (2012). Embryonic stem cell trials for macular degeneration: A preliminary report. Lancet, 379(9817), 713–720.
Schwartz, S. D., Regillo, C. D., Lam, B. L., Eliott, D., Rosenfeld, P. J., Gregori, N. Z., … Lanza, R. (2015). Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: Follow-up of two openlabel phase 1/2 studies. Lancet, 385(9967), 509–516.
Singh, R., Fujinami, K., Chen, L. L., Michaelides, M., & Moore, A. T. (2014). Longitudinal follow-up of siblings with a discordant Stargardt disease phenotype. Acta Ophthalmologica, 92(4), e331–e332.
Strauss, R. W., Ho, A., Munoz, B., Cideciyan, A. V., Sahel, J. A., Sunness, J. S., … Progression of Stargardt Disease Study G. (2016). The natural history of the progression of atrophy secondary to Stargardt disease (ProgStar) studies: Design and baseline characteristics: ProgStar report no. 1. Ophthalmology, 123(4), 817–828.
Strauss, R. W., Kong, X., Ho, A., Jha, A., West, S., Ip, M., … ProgStar Study, G. (2019). Progression of Stargardt disease as determined by fundus autofluorescence over a 12-month period: ProgStar report no. 11. JAMA Ophthalmology, 137, 1134.
Strauss, R. W., Munoz, B., Ho, A., Jha, A., Michaelides, M., Cideciyan, A. V., … ProgStar Study, G. (2017a). Progression of Stargardt disease as determined by fundus autofluorescence in the retrospective progression of Stargardt disease Study (ProgStar report no. 9). JAMA Ophthalmology, 135(11), 1232–1241.
Strauss, R. W., Munoz, B., Ho, A., Jha, A., Michaelides, M., MohandSaid, S., … ProgStar Study, G. (2017b). Incidence of atrophic lesions in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study: Report no. 5. JAMA Ophthalmology, 135(7), 687–695.
Tanna, P., Georgiou, M., Aboshiha, J., Strauss, R. W., Kumaran, N., Kalitzeos, A., … Michaelides, M. (2018). Cross-sectional and longitudinal assessment of retinal sensitivity in patients with childhoodonset Stargardt disease. Translational Vision Science & Technology, 7(6), 10.
Tanna, P., Georgiou, M., Strauss, R. W., Ali, N., Kumaran, N., Kalitzeos, A., … Michaelides, M. (2019). Cross-sectional and longitudinal assessment of the ellipsoid zone in childhood-onset Stargardt disease. Translational Vision Science & Technology, 8(2), 1.
Tanna, P., Strauss, R. W., Fujinami, K., & Michaelides, M. (2017). Stargardt disease: Clinical features, molecular genetics, animal models and therapeutic options. The British Journal of Ophthalmology, 101(1), 25–30.
Testa, F., Melillo, P., Di Iorio, V., Orrico, A., Attanasio, M., Rossi, S., & Simonelli, F. (2014). Macular function and morphologic features in juvenile stargardt disease: Longitudinal study. Ophthalmology, 121(12), 2399–2405.
Tsybovsky, Y., Molday, R. S., & Palczewski, K. (2010). The ATP-binding cassette transporter ABCA4: Structural and functional properties and role in retinal disease. Advances in Experimental Medicine and Biology, 703, 105–125.
Xin, W., Xiao, X., Li, S., Jia, X., Guo, X., & Zhang, Q. (2015). Identification of genetic defects in 33 Probands with Stargardt disease by WES-based bioinformatics gene panel analysis. PLoS One, 10, e0132635.
論文の公開元へ
