Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
PROM1
autosomal dominant
cone dystrophy
cone rod dystrophy
macular dystrophy
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
15
05
2020
revised:
26
07
2020
accepted:
27
07
2020
pubmed:
21
8
2020
medline:
3
6
2021
entrez:
22
8
2020
Statut:
ppublish
Résumé
Variants in the PROM1 gene are associated with cone (-rod) dystrophy, macular dystrophy, and other phenotypes. We describe the clinical and genetic characteristics of 10 patients from eight Japanese families with PROM1-associated retinal disorder (PROM1-RD) in a nationwide cohort. A literature review of PROM1-RD in the Japanese population was also performed. The median age at onset/examination of 10 patients was 31.0 (range, 10-45)/44.5 (22-73) years. All 10 patients showed atrophic macular changes. Seven patients (70.0%) had spared fovea to various degrees, approximately half of whom had maintained visual acuity. Generalized cone (-rod) dysfunction was demonstrated in all nine subjects with available electrophysiological data. Three PROM1 variants were identified in this study: one recurrent disease-causing variant (p.Arg373Cys), one novel putative disease-causing variant (p.Cys112Arg), and one novel variant of uncertain significance (VUS; p.Gly53Asp). Characteristic features of macular atrophy with generalized cone-dominated retinal dysfunction were shared among all 10 subjects with PROM1-RD, and the presence of foveal sparing was crucial in maintaining visual acuity. Together with the three previously reported variants [p.R373C, c.1551+1G>A (pathogenic), p.Asn580His (likely benign)] in the literature of Japanese patients, one prevalent missense variant (p.Arg373Cys, 6/9 families, 66.7%) detected in multiple studies was determined in the Japanese population, which was also frequently detected in the European population.
Identifiants
pubmed: 32820593
doi: 10.1002/ajmg.c.31826
doi:
Substances chimiques
AC133 Antigen
0
PROM1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
656-674Informations de copyright
© 2020 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.
Références
Arai, Y., Maeda, A., Hirami, Y., Ishigami, C., Kosugi, S., Mandai, M., … Takahashi, M. (2015). Retinitis pigmentosa with EYS mutations is the most prevalent inherited retinal dystrophy in Japanese populations. Journal of Ophthalmology, 2015, 1-10. https://doi.org/10.1155/2015/819760 819760.
Arrigoni, F. I., Matarin, M., Thompson, P. J., Michaelides, M., McClements, M. E., Redmond, E., … Sisodiya, S. M. (2011). Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. European Journal of Human Genetics, 19(2), 131-137. https://doi.org/10.1038/ejhg.2010.147
Ba-Abbad, R., Robson, A. G., MacPhee, B., Webster, A. R., & Michaelides, M. (2019). Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2. Ophthalmic Genetics, 40(2), 188-189. https://doi.org/10.1080/13816810.2019.1605393
Beryozkin, A., Zelinger, L., Bandah-Rozenfeld, D., Shevach, E., Harel, A., Storm, T., … Sharon, D. (2014). Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. Investigative Ophthalmology & Visual Science, 55(2), 1149-1160. https://doi.org/10.1167/iovs.13-13625
Bhattacharya, S., Yin, J., Winborn, C. S., Zhang, Q., Yue, J., & Chaum, E. (2017). Prominin-1 is a novel regulator of autophagy in the human retinal pigment epithelium. Investigative Ophthalmology & Visual Science, 58(4), 2366-2387. https://doi.org/10.1167/iovs.16-21162
Birtel, J., Eisenberger, T., Gliem, M., Muller, P. L., Herrmann, P., Betz, C., … Charbel Issa, P. (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Scientific Reports, 8(1), 4824. https://doi.org/10.1038/s41598-018-22096-0
Boulanger-Scemama, E., El Shamieh, S., Demontant, V., Condroyer, C., Antonio, A., Michiels, C., … Audo, I. (2015). Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: Mutation spectrum and new genotype-phenotype correlation. Orphanet Journal of Rare Diseases, 10, 85. https://doi.org/10.1186/s13023-015-0300-3
Bouzia, Z., Georgiou, M., Hull, S., Robson, A. G., Fujinami, K., Rotsos, T., … Michaelides, M. (2020). GUCY2D-associated Leber congenital amaurosis: A retrospective natural history study in preparation for trials of novel therapies. American Journal of Ophthalmology, 210, 59-70. https://doi.org/10.1016/j.ajo.2019.10.019
Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., … Raymond, F. L. (2017). Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. American Journal of Human Genetics, 100(1), 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003
Cehajic-Kapetanovic, J., Birtel, J., McClements, M. E., Shanks, M. E., Clouston, P., Downes, S. M., … MacLaren, R. E. (2019). Clinical and molecular characterization of PROM1-related retinal degeneration. JAMA Network Open, 2(6), e195752. https://doi.org/10.1001/jamanetworkopen.2019.5752
Collison, F. T., Fishman, G. A., Nagasaki, T., Zernant, J., McAnany, J. J., Park, J. C., & Allikmets, R. (2019). Characteristic ocular features in cases of autosomal recessive PROM1 cone-rod dystrophy. Investigative Ophthalmology & Visual Science, 60(6), 2347-2356. https://doi.org/10.1167/iovs.19-26993
Davidson, A. E., Sergouniotis, P. I., Mackay, D. S., Wright, G. A., Waseem, N. H., Michaelides, M., … Webster, A. R. (2013). RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. Human Mutation, 34(3), 506-514. https://doi.org/10.1002/humu.22264
Eidinger, O., Leibu, R., Newman, H., Rizel, L., Perlman, I., & Ben-Yosef, T. (2015). An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. Molecular Vision, 21, 1295-1306.
Eisenberger, T., Neuhaus, C., Khan, A. O., Decker, C., Preising, M. N., Friedburg, C., … Bolz, H. J. (2013). Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: The example of retinal dystrophies. PLoS One, 8(11), e78496. https://doi.org/10.1371/journal.pone.0078496
Fujinami-Yokokawa, Y., Pontikos, N., Yang, L., Tsunoda, K., Yoshitake, K., Iwata, T., … Japan Eye Genetics Consortium, O. B. O. (2019). Prediction of causative genes in inherited retinal disorders from spectral-domain optical coherence tomography utilizing deep learning techniques. Journal of Ophthalmology, 2019, 1-7. https://doi.org/10.1155/2019/1691064 1691064
Fujinami-Yokokawa, Y., Fujinami, K., Kuniyoshi, K., Hayashi, T., Ueno, S., & Mizota, A., … Japan Eye Genetics Consortium. (2020). Clinical and genetic characteristics of 18 patients from 13 Japanese families with CRX-associated retinal disorder: Identification of genotype-phenotype associations. Scientific Reports, 10(1), 9531. https://doi.org/10.1038/s41598-020-65737-z
Fujinami, K., Kameya, S., Kikuchi, S., Ueno, S., Kondo, M., Hayashi, T., … Tsunoda, K. (2016). Novel RP1L1 variants and genotype-photoreceptor microstructural phenotype associations in cohort of Japanese patients with occult macular dystrophy. Investigative Ophthalmology & Visual Science, 57(11), 4837-4846. https://doi.org/10.1167/iovs.16-19670
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. https://doi.org/10.1016/j.ajo.2013.01.018
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. https://doi.org/10.1167/iovs.13-12104
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. https://doi.org/10.1016/j.ophtha.2013.04.016
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. https://doi.org/10.1016/j.ajo.2013.05.003
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. https://doi.org/10.1111/aos.12259
Fujinami, K., Yang, L., Joo, K., Tsunoda, K., Kameya, S., Hanazono, G., … East Asia Inherited Retinal Disease Society study, G. (2019). Clinical and genetic characteristics of east Asian patients with occult macular dystrophy (Miyake disease): East Asia occult macular dystrophy studies report number 1. Ophthalmology, 126(10), 1432-1444. https://doi.org/10.1016/j.ophtha.2019.04.032
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. https://doi.org/10.1016/j.ophtha.2014.08.012
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. https://doi.org/10.1016/j.ajo.2019.11.008
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. https://doi.org/10.1136/bjophthalmol-2018-313278
Hirji, N., Aboshiha, J., Georgiou, M., Bainbridge, J., & Michaelides, M. (2018). Achromatopsia: Clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genetics, 39(2), 149-157. https://doi.org/10.1080/13816810.2017.1418389
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. https://doi.org/10.1007/s10633-011-9296-8
Hull, S., Arno, G., Plagnol, V., Chamney, S., Russell-Eggitt, I., Thompson, D., … Webster, A. R. (2014). The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Investigative Ophthalmology & Visual Science, 55(10), 6934-6944. https://doi.org/10.1167/iovs.14-14715
Hunt, D. M., Buch, P., & Michaelides, M. (2010). Guanylate cyclases and associated activator proteins in retinal disease. Molecular and Cellular Biochemistry, 334(1-2), 157-168. https://doi.org/10.1007/s11010-009-0331-y
Imani, S., Cheng, J., Shasaltaneh, M. D., Wei, C., Yang, L., Fu, S., … Fu, J. (2018). Genetic identification and molecular modeling characterization reveal a novel PROM1 mutation in Stargardt4-like macular dystrophy. Oncotarget, 9(1), 122-141. https://doi.org/10.18632/oncotarget.22343
Jinda, W., Taylor, T. D., Suzuki, Y., Thongnoppakhun, W., Limwongse, C., Lertrit, P., … Atchaneeyasakul, L. O. (2014). Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. Investigative Ophthalmology & Visual Science, 55(4), 2259-2268. https://doi.org/10.1167/iovs.13-13567
Kameya, S., Fujinami, K., Ueno, S., Hayashi, T., Kuniyoshi, K., Ideta, R., … Japan Eye Genetics, C. (2019). Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: Cone dystrophy with normal funduscopic appearance. Investigative Ophthalmology & Visual Science, 60(10), 3432-3446. https://doi.org/10.1167/iovs.19-26650
Katagiri, S., Hayashi, T., Mizobuchi, K., Yoshitake, K., Iwata, T., & Nakano, T. (2018). Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). Ophthalmic Genetics, 39(3), 357-365. https://doi.org/10.1080/13816810.2018.1459737
Khan, A. O., & Bolz, H. J. (2015). Pediatric cone-rod dystrophy with high myopia and nystagmus suggests recessive PROM1 mutations. Ophthalmic Genetics, 36(4), 349-352. https://doi.org/10.3109/13816810.2014.886266
Kim, J. M., Lee, C., Lee, G. I., Kim, N. K. D., Ki, C. S., Park, W. Y., … Kim, S. J. (2017). Identification of the PROM1 mutation p.R373C in a Korean patient with autosomal dominant Stargardt-like macular dystrophy. Annals of Laboratory Medicine, 37(6), 536-539. https://doi.org/10.3343/alm.2017.37.6.536
Kim, M. S., Joo, K., Seong, M. W., Kim, M. J., Park, K. H., Park, S. S., & Woo, S. J. (2019). Genetic mutation profiles in Korean patients with inherited retinal diseases. Journal of Korean Medical Science, 34(21), e161. https://doi.org/10.3346/jkms.2019.34.e161
Kniazeva, M., Chiang, M. F., Morgan, B., Anduze, A. L., Zack, D. J., Han, M., & Zhang, K. (1999). A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. American Journal of Human Genetics, 64(5), 1394-1399. https://doi.org/10.1086/302377
Kominami, A., Ueno, S., Kominami, T., Nakanishi, A., Ito, Y., Fujinami, K., … Terasaki, H. (2018). Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genetics, 39(2), 255-262. https://doi.org/10.1080/13816810.2017.1408846
Kondo, H., Oku, K., Katagiri, S., Hayashi, T., Nakano, T., Iwata, A., … Iwata, T. (2019). Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. Human Genome Variation, 6, 3. https://doi.org/10.1038/s41439-018-0034-6
Koyanagi, Y., Akiyama, M., Nishiguchi, K. M., Momozawa, Y., Kamatani, Y., Takata, S., … Sonoda, K. H. (2019). Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. Journal of Medical Genetics, 56(10), 662-670. https://doi.org/10.1136/jmedgenet-2018-105691
Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: Clinical features, molecular genetics and therapeutic interventions. The British Journal of Ophthalmology, 101(9), 1147-1154. https://doi.org/10.1136/bjophthalmol-2016-309975
Liang, J., She, X., Chen, J., Zhai, Y., Liu, Y., Zheng, K., … Sun, X. (2019). Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy. Graefe's Archive for Clinical and Experimental Ophthalmology, 257(3), 619-628. https://doi.org/10.1007/s00417-018-04206-w
Liew, G., Michaelides, M., & Bunce, C. (2014). A comparison of the causes of blindness certifications in England and Wales in working age adults (16-64 years), 1999-2000 with 2009-2010. BMJ Open, 4(2), e004015. https://doi.org/10.1136/bmjopen-2013-004015
Littink, K. W., Koenekoop, R. K., van den Born, L. I., Collin, R. W., Moruz, L., Veltman, J. A., … den Hollander, A. I. (2010). Homozygosity mapping in patients with cone-rod dystrophy: Novel mutations and clinical characterizations. Investigative Ophthalmology & Visual Science, 51(11), 5943-5951. https://doi.org/10.1167/iovs.10-5797
Liu, S., Xie, L., Yue, J., Ma, T., Peng, C., Qiu, B., … Yang, J. (2016). Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. International Journal of Molecular Medicine, 37(6), 1528-1534. https://doi.org/10.3892/ijmm.2016.2551
Liu, X., Fujinami, K., Kuniyoshi, K., Kondo, M., Ueno, S., Hayashi, T., … Japan Eye Genetics Consortium. (2020). Clinical and genetic characteristics of 15 affected patients from 12 Japanese families with GUCY2D-associated retinal disorder. Translational Vision Science & Technology, 9(6), 2. http://dx.doi.org/10.1167/tvst.9.6.2
Maw, M. A., Corbeil, D., Koch, J., Hellwig, A., Wilson-Wheeler, J. C., Bridges, R. J., … Denton, M. J. (2000). A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Human Molecular Genetics, 9(1), 27-34.
Mawatari, G., Fujinami, K., Liu, X., Yang, L., Yokokawa, Y. F., Komori, S., … J.S. Group. (2019). Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: Report of eight novel variants. Human Genome Variation, 6, 34. https://doi.org/10.1038/s41439-019-0065-7
Mayer, A. K., Rohrschneider, K., Strom, T. M., Glockle, N., Kohl, S., Wissinger, B., & Weisschuh, N. (2016). Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. European Journal of Human Genetics, 24(3), 459-462. https://doi.org/10.1038/ejhg.2015.144
McCulloch, D. L., Marmor, M. F., Brigell, M. G., Hamilton, R., Holder, G. E., Tzekov, R., & Bach, M. (2015a). Erratum to: ISCEV standard for full-field clinical electroretinography (2015 update). Documenta Ophthalmologica, 131(1), 81-83. https://doi.org/10.1007/s10633-015-9504-z
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. https://doi.org/10.1007/s10633-014-9473-7
Michaelides, M., Gaillard, M. C., Escher, P., Tiab, L., Bedell, M., Borruat, F. X., … Munier, F. L. (2010). The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Investigative Ophthalmology & Visual Science, 51(9), 4771-4780. https://doi.org/10.1167/iovs.09-4561
Michaelides, M., Hardcastle, A. J., Hunt, D. M., & Moore, A. T. (2006). Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis. Survey of Ophthalmology, 51(3), 232-258. https://doi.org/10.1016/j.survophthal.2006.02.007
Michaelides, M., Holder, G. E., Webster, A. R., Hunt, D. M., Bird, A. C., Fitzke, F. W., … Moore, A. T. (2005). A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". The British Journal of Ophthalmology, 89(3), 332-339. https://doi.org/10.1136/bjo.2004.050567
Michaelides, M., Hunt, D. M., & Moore, A. T. (2003). The genetics of inherited macular dystrophies. Journal of Medical Genetics, 40(9), 641-650.
Michaelides, M., Johnson, S., Poulson, A., Bradshaw, K., Bellmann, C., Hunt, D. M., & Moore, A. T. (2003). An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. Investigative Ophthalmology & Visual Science, 44(4), 1657-1662. https://doi.org/10.1167/iovs.02-0941
Miraglia, S., Godfrey, W., Yin, A. H., Atkins, K., Warnke, R., Holden, J. T., … Buck, D. W. (1997). A novel five-transmembrane hematopoietic stem cell antigen: Isolation, characterization, and molecular cloning. Blood, 90(12), 5013-5021.
Mizobuchi, K., Hayashi, T., Katagiri, S., Yoshitake, K., Fujinami, K., Yang, L., … Nakano, T. (2019). Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: Low prevalence among Japanese patients with inherited retinal dystrophies. Scientific Reports, 9(1), 16851. https://doi.org/10.1038/s41598-019-52660-1
Nakamura, N., Tsunoda, K., Mizuno, Y., Usui, T., Hatase, T., Ueno, S., … Miyake, Y. (2019). Clinical stages of occult macular dystrophy based on optical coherence tomographic findings. Investigative Ophthalmology & Visual Science, 60(14), 4691-4700. https://doi.org/10.1167/iovs.19-27486
Nakanishi, A., Ueno, S., Hayashi, T., Katagiri, S., Kominami, T., Ito, Y., … Terasaki, H. (2016). Clinical and genetic findings of autosomal recessive bestrophinopathy in Japanese cohort. American Journal of Ophthalmology, 168, 86-94. https://doi.org/10.1016/j.ajo.2016.04.023
Oishi, M., Oishi, A., Gotoh, N., Ogino, K., Higasa, K., Iida, K., … Yoshimura, N. (2014). Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative Ophthalmology & Visual Science, 55(11), 7369-7375. https://doi.org/10.1167/iovs.14-15458
Oishi, M., Oishi, A., Gotoh, N., Ogino, K., Higasa, K., Iida, K., … Yoshimura, N. (2016). Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular Vision, 22, 150-160.
Permanyer, J., Navarro, R., Friedman, J., Pomares, E., Castro-Navarro, J., Marfany, G., … Gonzalez-Duarte, R. (2010). Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1. Investigative Ophthalmology & Visual Science, 51(5), 2656-2663. https://doi.org/10.1167/iovs.09-4857
Pontikos, N., Murphy, C., Moghul, I., Arno, G., Fujinami, K., Fujinami, Y., … Uk Inherited Retinal Dystrophy Consortium, P. C. (2020). Phenogenon: Gene to phenotype associations for rare genetic diseases. PLoS One, 15(4), e0230587. https://doi.org/10.1371/journal.pone.0230587
Pras, E., Abu, A., Rotenstreich, Y., Avni, I., Reish, O., Morad, Y., … Pras, E. (2009). Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Molecular Vision, 15, 1709-1716.
Ragi, S. D., Lima de Carvalho, J. R., Jr., Tanaka, A. J., Park, K. S., Mahajan, V. B., Maumenee, I. H., & Tsang, S. H. (2019). Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. Cold Spring Harbor Molecular Case Studies, 5(6), a004481. https://doi.org/10.1101/mcs.a004481
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. https://doi.org/10.1136/bjophthalmol-2019-315086
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. https://doi.org/10.1038/gim.2015.30
Robson, A. G., Nilsson, J., Li, S., Jalali, S., Fulton, A. B., Tormene, A. P., … Brodie, S. E. (2018). ISCEV guide to visual electrodiagnostic procedures. Documenta Ophthalmologica, 136(1), 1-26. https://doi.org/10.1007/s10633-017-9621-y
Salles, M. V., Motta, F. L., Dias da Silva, E., Varela Lima Teixeira, P., Antunes Costa, K., Filippelli-Silva, R., … Ferraz Sallum, J. M. (2017). PROM1 gene variations in Brazilian patients with macular dystrophy. Ophthalmic Genetics, 38(1), 39-42. https://doi.org/10.1080/13816810.2016.1275022
Sisodiya, S. M., Thompson, P. J., Need, A., Harris, S. E., Weale, M. E., Wilkie, S. E., … Moore, A. T. (2007). Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. Journal of Medical Genetics, 44(6), 373-380. https://doi.org/10.1136/jmg.2006.047407
Sohocki, M. M., Daiger, S. P., Bowne, S. J., Rodriquez, J. A., Northrup, H., Heckenlively, J. R., … Sullivan, L. S. (2001). Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human Mutation, 17(1), 42-51. https://doi.org/10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K
Solebo, A. L., Teoh, L., & Rahi, J. (2017). Epidemiology of blindness in children. Archives of Disease in Childhood, 102(9), 853-857. https://doi.org/10.1136/archdischild-2016-310532
Song, J., Smaoui, N., Ayyagari, R., Stiles, D., Benhamed, S., MacDonald, I. M., … Wang, X. (2011). High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Investigative Ophthalmology & Visual Science, 52(12), 9053-9060. https://doi.org/10.1167/iovs.11-7978
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. https://doi.org/10.1016/j.ophtha.2015.12.009
Strauss, R. W., Munoz, B., Ahmed, M. I., Bittencourt, M., Schonbach, E. M., Michaelides, M., … ProgStar-4 Study, G. (2018). The progression of the Stargardt disease type 4 (ProgStar-4) study: Design and baseline characteristics (ProgStar-4 report no. 1). Ophthalmic Research, 60(3), 185-194. https://doi.org/10.1159/000491791
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. https://doi.org/10.1136/bjophthalmol-2016-308823
Tee, J. J., Smith, A. J., Hardcastle, A. J., & Michaelides, M. (2016). RPGR-associated retinopathy: Clinical features, molecular genetics, animal models and therapeutic options. The British Journal of Ophthalmology, 100(8), 1022-1027. https://doi.org/10.1136/bjophthalmol-2015-307698
Tee, J. J. L., Yang, Y., Kalitzeos, A., Webster, A., Bainbridge, J., & Michaelides, M. (2019). Natural history study of retinal structure, progression, and symmetry using ellipzoid zone metrics in RPGR-associated retinopathy. American Journal of Ophthalmology, 198, 111-123. https://doi.org/10.1016/j.ajo.2018.10.003
Wawrocka, A., Skorczyk-Werner, A., Wicher, K., Niedziela, Z., Ploski, R., Rydzanicz, M., … Krawczynski, M. R. (2018). Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Molecular Vision, 24, 326-339.
Yang, L., Fujinami, K., Ueno, S., Kuniyoshi, K., Hayashi, T., Kondo, M., … Group, J. S. (2020). Genetic spectrum of EYS-associated retinal disease in a large Japanese cohort: Identification of disease-associated variants with relatively high allele frequency. Scientific Reports, 10(1), 5497. https://doi.org/10.1038/s41598-020-62119-3
Yang, Z., Chen, Y., Lillo, C., Chien, J., Yu, Z., Michaelides, M., … Zhang, K. (2008). Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. The Journal of Clinical Investigation, 118(8), 2908-2916. https://doi.org/10.1172/JCI35891
Yin, A. H., Miraglia, S., Zanjani, E. D., Almeida-Porada, G., Ogawa, M., Leary, A. G., … Buck, D. W. (1997). AC133, a novel marker for human hematopoietic stem and progenitor cells. Blood, 90(12), 5002-5012.
Zhang, Q., Zulfiqar, F., Xiao, X., Riazuddin, S. A., Ahmad, Z., Caruso, R., … Hejtmancik, J. F. (2007). Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Human Genetics, 122(3-4), 293-299. https://doi.org/10.1007/s00439-007-0395-2
Zhao, L., Wang, F., Wang, H., Li, Y., Alexander, S., Wang, K., … Chen, R. (2015). Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Human Genetics, 134(2), 217-230. https://doi.org/10.1007/s00439-014-1512-7