{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:34:46Z","timestamp":1792604086617,"version":"4.5.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1007\/s10633-023-09935-w","type":"journal-article","created":{"date-parts":[[2023,5,11]],"date-time":"2023-05-11T05:28:38Z","timestamp":1683782918000},"page":"281-291","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)"],"prefix":"10.1007","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6507","authenticated-orcid":false,"given":"Kei","family":"Mizobuchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Ohira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,10]]},"reference":[{"key":"9935_CR1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3109\/13816819709041431","volume":"18","author":"DJ Colville","year":"1997","unstructured":"Colville DJ, Savige J (1997) Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 18:161\u201373","journal-title":"Ophthalmic Genet"},{"key":"9935_CR2","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/nrneph.2009.65","volume":"5","author":"J Savige","year":"2009","unstructured":"Savige J, Colville D (2009) Opinion: ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol 5:356\u2013360","journal-title":"Nat Rev Nephrol"},{"key":"9935_CR3","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1038\/ki.1985.63","volume":"27","author":"J Feingold","year":"1985","unstructured":"Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Gr\u00fcnfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672\u2013677","journal-title":"Kidney Int"},{"key":"9935_CR4","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1126\/science.2349482","volume":"248","author":"DF Barker","year":"1990","unstructured":"Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224\u20131227","journal-title":"Science"},{"key":"9935_CR5","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/ng0994-77","volume":"8","author":"T Mochizuki","year":"1994","unstructured":"Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schr\u00f6der CH, Smeets HJ, Reeders ST (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77\u201381","journal-title":"Nat Genet"},{"key":"9935_CR6","doi-asserted-by":"publisher","first-page":"26033","DOI":"10.1016\/S0021-9258(19)74270-7","volume":"268","author":"BG Hudson","year":"1993","unstructured":"Hudson BG, Reeders ST, Tryggvason K (1993) Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis. J Biol Chem 268:26033\u201326036","journal-title":"J Biol Chem"},{"key":"9935_CR7","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1056\/NEJMra022296","volume":"348","author":"BG Hudson","year":"2003","unstructured":"Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG (2003) Alport\u2019s syndrome, Goodpasture\u2019s syndrome, and type IV collagen. N Engl J Med 348:2543\u20132556","journal-title":"N Engl J Med"},{"key":"9935_CR8","doi-asserted-by":"publisher","first-page":"4989","DOI":"10.1167\/iovs.07-0654","volume":"48","author":"A Kabosova","year":"2007","unstructured":"Kabosova A, Azar DT, Bannikov GA, Campbell KP, Durbeej M, Ghohestani RF, Jones JC, Kenney MC, Koch M, Ninomiya Y, Patton BL, Paulsson M, Sado Y, Sage EH, Sasaki T, Sorokin LM, Steiner-Champliaud MF, Sun TT, Sundarraj N, Timpl R, Virtanen I, Ljubimov AV (2007) Compositional differences between infant and adult human corneal basement membranes. Invest Ophthalmol Vis Sci 48:4989\u20134999","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9935_CR9","doi-asserted-by":"publisher","first-page":"1621","DOI":"10.1167\/iovs.08-3323","volume":"51","author":"J Savige","year":"2010","unstructured":"Savige J, Liu J, DeBuc DC, Handa JT, Hageman GS, Wang YY, Parkin JD, Vote B, Fassett R, Sarks S, Colville D (2010) Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci 51:1621\u20131627","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9935_CR10","doi-asserted-by":"crossref","unstructured":"Rhys C, Snyers B, Pirson Y (1997) Recurrent corneal erosion associated with Alport's syndrome. Rapid communication. Kidney Int. 52:208\u2013211","DOI":"10.1038\/ki.1997.321"},{"key":"9935_CR11","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1001\/archopht.121.6.846","volume":"121","author":"S Ohkubo","year":"2003","unstructured":"Ohkubo S, Takeda H, Higashide T, Ito M, Sakurai M, Shirao Y, Yanagida T, Oda Y, Sado Y (2003) Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. Arch Ophthalmol 121:846\u2013850","journal-title":"Arch Ophthalmol"},{"key":"9935_CR12","doi-asserted-by":"crossref","unstructured":"Sonarkhan S, Ramappa M, Chaurasia S, Mulay K (2014) Bilateral anterior lenticonus in a case of Alport syndrome: a clinical and histopathological correlation after successful clear lens extraction. BMJ Case Rep. 2014","DOI":"10.1136\/bcr-2013-202036"},{"key":"9935_CR13","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s00467-013-2643-0","volume":"29","author":"Y Wang","year":"2014","unstructured":"Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J (2014) Clinical and genetic features in autosomal recessive and X-linked Alport syndrome. Pediatr Nephrol 29:391\u2013396","journal-title":"Pediatr Nephrol"},{"key":"9935_CR14","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1093\/ndt\/gfl607","volume":"22","author":"EA Shaw","year":"2007","unstructured":"Shaw EA, Colville D, Wang YY, Zhang KW, Dagher H, Fassett R, Guymer R, Savige J (2007) Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol Dial Transplant 22:104\u2013108","journal-title":"Nephrol Dial Transplant"},{"key":"9935_CR15","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1111\/j.1600-0420.1996.tb00688.x","volume":"74","author":"UO Mete","year":"1996","unstructured":"Mete UO, Karaaslan C, Ozbilgin MK, Polat S, Tap O, Kaya M (1996) Alport\u2019s syndrome with bilateral macula hole. Acta Ophthalmol Scand 74:77\u201380","journal-title":"Acta Ophthalmol Scand"},{"key":"9935_CR16","doi-asserted-by":"publisher","first-page":"977","DOI":"10.1097\/00006982-200412000-00026","volume":"24","author":"T Usui","year":"2004","unstructured":"Usui T, Ichibe M, Hasegawa S, Miki A, Baba E, Tanimoto N, Abe H (2004) Symmetrical reduced retinal thickness in a patient with Alport syndrome. Retina 24:977\u2013979","journal-title":"Retina"},{"key":"9935_CR17","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1093\/ndt\/17.7.1218","volume":"17","author":"O Gross","year":"2002","unstructured":"Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M (2002) Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 17:1218\u20131227","journal-title":"Nephrol Dial Transplant"},{"key":"9935_CR18","doi-asserted-by":"publisher","first-page":"703","DOI":"10.2215\/CJN.10581014","volume":"10","author":"J Savige","year":"2015","unstructured":"Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D (2015) Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol 10:703\u2013709","journal-title":"Clin J Am Soc Nephrol"},{"key":"9935_CR19","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1007\/s10633-022-09872-0","volume":"144","author":"AG Robson","year":"2022","unstructured":"Robson AG, Frishman LJ, Grigg J, Hamilton R, Jeffrey BG, Kondo M, Li S, McCulloch DL (2022) ISCEV Standard for full-field clinical electroretinography (2022 update). Doc Ophthalmol 144:165\u201377","journal-title":"Doc Ophthalmol"},{"key":"9935_CR20","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/s10633-022-09874-y","volume":"144","author":"K Mizobuchi","year":"2022","unstructured":"Mizobuchi K, Hayashi T, Matsuura T, Nakano T (2022) Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family. Doc Ophthalmol 144:227\u2013235","journal-title":"Doc Ophthalmol"},{"key":"9935_CR21","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s10633-019-09727-1","volume":"140","author":"T Hayashi","year":"2020","unstructured":"Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y (2020) Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. Doc Ophthalmol 140:147\u2013157","journal-title":"Doc Ophthalmol"},{"key":"9935_CR22","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/s10633-019-09743-1","volume":"140","author":"W Ninomiya","year":"2020","unstructured":"Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T (2020) Electroretinographic abnormalities associated with pregabalin: a case report. Doc Ophthalmol 140:279\u2013287","journal-title":"Doc Ophthalmol"},{"key":"9935_CR23","doi-asserted-by":"publisher","first-page":"3432","DOI":"10.1167\/iovs.19-26650","volume":"60","author":"S Kameya","year":"2019","unstructured":"Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K (2019) Phenotypical characteristics of POC1B-associated retinopathy in Japanese cohort: cone dystrophy with normal funduscopic appearance. Invest Ophthalmol Vis Sci 60:3432\u20133446","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9935_CR24","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1080\/13816810.2020.1810284","volume":"41","author":"D Kubota","year":"2020","unstructured":"Kubota D, Matsumoto K, Hayashi M, Oishi N, Gocho K, Yamaki K, Kobayakawa S, Igarashi T, Takahashi H, Kameya S (2020) High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation. Ophthalmic Genet 41:629\u2013638","journal-title":"Ophthalmic Genet"},{"key":"9935_CR25","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1016\/j.jmoldx.2018.04.004","volume":"20","author":"R Fujiki","year":"2018","unstructured":"Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O (2018) Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing. J Mol Diagn 20:572\u2013582","journal-title":"J Mol Diagn"},{"key":"9935_CR26","doi-asserted-by":"crossref","unstructured":"Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T (2020) Novel homozygous CLN3 missense variant in isolated retinal dystrophy: a case report and electron microscopic findings. Mol Genet Genomic Med.e1308","DOI":"10.1002\/mgg3.1308"},{"key":"9935_CR27","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotechnol 29:24\u201326","journal-title":"Nat Biotechnol"},{"key":"9935_CR28","doi-asserted-by":"publisher","first-page":"34","DOI":"10.2215\/CJN.01030209","volume":"5","author":"R Tan","year":"2010","unstructured":"Tan R, Colville D, Wang YY, Rigby L, Savige J (2010) Alport retinopathy results from \u201csevere\u201d COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol 5:34\u201338","journal-title":"Clin J Am Soc Nephrol"},{"key":"9935_CR29","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1136\/bjo.67.8.493","volume":"67","author":"JA Govan","year":"1983","unstructured":"Govan JA (1983) Ocular manifestations of Alport\u2019s syndrome: a hereditary disorder of basement membranes? Br J Ophthalmol 67:493\u2013503","journal-title":"Br J Ophthalmol"},{"key":"9935_CR30","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1167\/iovs.61.2.5","volume":"61","author":"K Hess","year":"2020","unstructured":"Hess K, Pfau M, Wintergerst MWM, Loeffler KU, Holz FG, Herrmann P (2020) Phenotypic spectrum of the foveal configuration and foveal avascular zone in patients with alport syndrome. Invest Ophthalmol Vis Sci 61:5","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9935_CR31","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1152\/jn.1984.51.1.164","volume":"51","author":"EA Newman","year":"1984","unstructured":"Newman EA, Odette LL (1984) Model of electroretinogram b-wave generation: a test of the K+ hypothesis. J Neurophysiol 51:164\u2013182","journal-title":"J Neurophysiol"},{"key":"9935_CR32","doi-asserted-by":"publisher","first-page":"1359","DOI":"10.1016\/0042-6989(95)98715-L","volume":"35","author":"N Tian","year":"1995","unstructured":"Tian N, Slaughter MM (1995) Correlation of dynamic responses in the ON bipolar neuron and the b-wave of the electroretinogram. Vision Res 35:1359\u20131364","journal-title":"Vision Res"},{"key":"9935_CR33","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1017\/S0952523800002431","volume":"11","author":"PA Sieving","year":"1994","unstructured":"Sieving PA, Murayama K, Naarendorp F (1994) Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave. Vis Neurosci 11:519\u2013532","journal-title":"Vis Neurosci"},{"key":"9935_CR34","doi-asserted-by":"publisher","first-page":"2431","DOI":"10.1016\/0042-6989(93)90122-D","volume":"33","author":"L Gurevich","year":"1993","unstructured":"Gurevich L, Slaughter MM (1993) Comparison of the waveforms of the ON bipolar neuron and the b-wave of the electroretinogram. Vis Res 33:2431\u20132435","journal-title":"Vis Res"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-023-09935-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10633-023-09935-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-023-09935-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T05:02:52Z","timestamp":1686286972000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10633-023-09935-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,10]]},"references-count":34,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["9935"],"URL":"https:\/\/doi.org\/10.1007\/s10633-023-09935-w","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,10]]},"assertion":[{"value":"24 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Takaaki Hayashi received research funds from Alcon (Tokyo, Japan), Johnson & Johnson Vision, AMO (Tokyo, Japan), Daiichi Sankyo (Tokyo, Japan), Chugai (Tokyo, Japan), Mitsubishi Tanabe Pharma (Osaka, Japan), Senju (Osaka, Japan), Bayer (Osaka, Japan), Ritz Medical (Aichi, Japan), Uni-Hite (Kanagawa, Japan), Kuribara (Gunma, Japan), Kowa (Aichi, Japan), Kyowa Kirin (Tokyo, Japan), and Otsuka Pharma (Tokyo, Japan). The funders had no role in study design, data collection and analysis, manuscript preparation, or decision to publish.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study protocol was approved by the Institutional Review Board of the Jikei University School of Medicine (approval no. 24\u2013231 6997). The protocol adhered to the tenets of the Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement of human rights"}},{"value":"This article does not contain any studies with animals performed by any of the authors.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement on the welfare of animals"}},{"value":"Written informed consent was obtained from the patient for publication of this case report.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}