{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T11:07:39Z","timestamp":1779361659811,"version":"3.51.4"},"reference-count":161,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T00:00:00Z","timestamp":1772928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T00:00:00Z","timestamp":1772928000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001785","name":"Flinders University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001785","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The light-rise of the electro-oculogram (EOG) is used as a clinical marker for a collection of disorders known as the \u2018bestrophinopathies.\u2019 This review provides an overview of these conditions including Best Vitelliform Macular Dystrophy (BVMD, Autosomal Recessive Bestrophinopathy (ARB), Adult Onset Vitelliform Macular Dystrophy (AVMD) and Autosomal Dominant Vitreoretinalchoriodopathy (ADVIRC) and potential future therapies. One drawback of the EOG is the time to administer the test and shortened protocols that have been developed to improve the clinical testing of the EOG which include incorporating measures during recordings of the ERG or shortening the period of dark and light adaptation. The companion paper summarizes the cellular mechanism of the EOG, and this review is focused on the clinical applications of the EOG.<\/jats:p>","DOI":"10.1007\/s10633-026-10093-y","type":"journal-article","created":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T05:11:00Z","timestamp":1772946660000},"page":"287-307","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Review of the clinical electrooculogram\u00a0- Part 2: the bestrophinopathies and modified protocols"],"prefix":"10.1007","volume":"152","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6453-5851","authenticated-orcid":false,"given":"Srikanta Kumar","family":"Padhy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6321-6931","authenticated-orcid":false,"given":"Maja \u0160u\u0161tar","family":"Habjan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3994-1700","authenticated-orcid":false,"given":"Paul A.","family":"Constable","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,3,8]]},"reference":[{"key":"10093_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-017-9573-2","volume":"134","author":"PA Constable","year":"2017","unstructured":"Constable PA, Bach M, Frishman LJ, Jeffrey BG, Robson AG (2017) International society for clinical electrophysiology of vision ISCEV standard for clinical electro-oculography (2017 update). Doc Ophthalmol 134:1\u20139. https:\/\/doi.org\/10.1007\/s10633-017-9573-2","journal-title":"Doc Ophthalmol"},{"key":"10093_CR2","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1152\/physrev.00021.2004","volume":"85","author":"O Strauss","year":"2005","unstructured":"Strauss O (2005) The retinal pigment epithelium in visual function. Physiol Rev 85:845\u2013881. https:\/\/doi.org\/10.1152\/physrev.00021.2004","journal-title":"Physiol Rev"},{"key":"10093_CR3","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/s0002-9394(14)70583-5","volume":"121","author":"S Panda-Jonas","year":"1996","unstructured":"Panda-Jonas S, Jonas JB, Jakobczyk-Zmija M (1996) Retinal pigment epithelial cell count, distribution, and correlations in normal human eyes. Am J Ophthalmol 121:181\u2013189. https:\/\/doi.org\/10.1016\/s0002-9394(14)70583-5","journal-title":"Am J Ophthalmol"},{"key":"10093_CR4","doi-asserted-by":"publisher","first-page":"100803","DOI":"10.1016\/j.preteyeres.2019.100803","volume":"76","author":"MA Fields","year":"2020","unstructured":"Fields MA, Del Priore LV, Adelman RA, Rizzolo LJ (2020) Interactions of the choroid, Bruch\u2019s membrane, retinal pigment epithelium, and neurosensory retina collaborate to form the outer blood-retinal-barrier. Prog Retin Eye Res 76:100803. https:\/\/doi.org\/10.1016\/j.preteyeres.2019.100803","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR5","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1016\/S0074-7696(07)58004-6","volume":"258","author":"LJ Rizzolo","year":"2007","unstructured":"Rizzolo LJ (2007) Development and role of tight junctions in the retinal pigment epithelium. Int Rev Cytol 258:195\u2013234. https:\/\/doi.org\/10.1016\/S0074-7696(07)58004-6","journal-title":"Int Rev Cytol"},{"key":"10093_CR6","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1016\/j.preteyeres.2017.01.005","volume":"58","author":"KE Guziewicz","year":"2017","unstructured":"Guziewicz KE, Sinha D, G\u00f3mez NM et al (2017) Bestrophinopathy: an RPE-photoreceptor interface disease. Prog Retin Eye Res 58:70\u201388. https:\/\/doi.org\/10.1016\/j.preteyeres.2017.01.005","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR7","doi-asserted-by":"publisher","first-page":"426","DOI":"10.1093\/med\/9780195326147.003.0028","volume-title":"Genetic diseases of the eye","author":"BP Leroy","year":"2012","unstructured":"Leroy BP (2012) Bestrophinopathies. In: El T (ed) Genetic diseases of the eye. Oxford University Press, Oxford, pp 426\u2013436"},{"key":"10093_CR8","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.preteyeres.2017.01.006","volume":"58","author":"AA Johnson","year":"2017","unstructured":"Johnson AA, Guziewicz KE, Lee CJ et al (2017) Bestrophin 1 and retinal disease. Prog Retin Eye Res 58:45\u201369. https:\/\/doi.org\/10.1016\/j.preteyeres.2017.01.006","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR9","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1001\/jamaophthalmol.2020.0666","volume":"138","author":"M Shah","year":"2020","unstructured":"Shah M, Broadgate S, Shanks M et al (2020) Association of clinical and genetic heterogeneity with BEST1 sequence variations. JAMA Ophthalmol 138:544\u2013551. https:\/\/doi.org\/10.1001\/jamaophthalmol.2020.0666","journal-title":"JAMA Ophthalmol"},{"key":"10093_CR10","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1007\/978-3-319-17121-0_98","volume":"854","author":"O Strau\u00df","year":"2016","unstructured":"Strau\u00df O, Reichhart N, Gomez NM, M\u00fcller C (2016) Contribution of ion channels in calcium signaling regulating phagocytosis: MaxiK, Cav1.3 and Bestrophin-1. Adv Exp Med Biol 854:739\u2013744. https:\/\/doi.org\/10.1007\/978-3-319-17121-0_98","journal-title":"Adv Exp Med Biol"},{"key":"10093_CR11","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1016\/j.cellsig.2013.12.021","volume":"26","author":"C M\u00fcller","year":"2014","unstructured":"M\u00fcller C, M\u00e1s G\u00f3mez N, Ruth P, Strauss O (2014) CaV1.3 L-type channels, maxiK Ca2+-dependent K+ channels and bestrophin-1 regulate rhythmic photoreceptor outer segment phagocytosis by retinal pigment epithelial cells. Cell Signal 26:968\u2013978. https:\/\/doi.org\/10.1016\/j.cellsig.2013.12.021","journal-title":"Cell Signal"},{"key":"10093_CR12","doi-asserted-by":"publisher","first-page":"E2630","DOI":"10.1073\/pnas.1418840112","volume":"112","author":"A Milenkovic","year":"2015","unstructured":"Milenkovic A, Brandl C, Milenkovic VM et al (2015) Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. Proc Natl Acad Sci USA 112:E2630\u2013E2639. https:\/\/doi.org\/10.1073\/pnas.1418840112","journal-title":"Proc Natl Acad Sci USA"},{"key":"10093_CR13","doi-asserted-by":"publisher","first-page":"4055","DOI":"10.1096\/fj.201901202RR","volume":"34","author":"M Cordes","year":"2020","unstructured":"Cordes M, Bucichowski P, Alfaar AS et al (2020) Inhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells. FASEB J 34:4055\u20134071. https:\/\/doi.org\/10.1096\/fj.201901202RR","journal-title":"FASEB J"},{"key":"10093_CR14","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.ajhg.2009.09.015","volume":"85","author":"AE Davidson","year":"2009","unstructured":"Davidson AE, Millar ID, Urquhart JE et al (2009) Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet 85:581\u2013592. https:\/\/doi.org\/10.1016\/j.ajhg.2009.09.015","journal-title":"Am J Hum Genet"},{"key":"10093_CR15","doi-asserted-by":"publisher","first-page":"3372","DOI":"10.1167\/iovs.06-0868","volume":"48","author":"RF Mullins","year":"2007","unstructured":"Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM (2007) Differential macular and peripheral expression of bestrophin in human eyes and its implication for Best disease. Invest Ophthalmol Vis Sci 48:3372\u20133380. https:\/\/doi.org\/10.1167\/iovs.06-0868","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR16","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1111\/j.1442-9071.1990.tb00610.x","volume":"18","author":"AH Greaves","year":"1990","unstructured":"Greaves AH, Sarks JP, Sarks SH (1990) Adult vitelliform macular degeneration: a clinical spectrum. Aust N Z J Ophthalmol 18:171\u2013178. https:\/\/doi.org\/10.1111\/j.1442-9071.1990.tb00610.x","journal-title":"Aust N Z J Ophthalmol"},{"key":"10093_CR17","first-page":"139","volume":"72","author":"JD Gass","year":"1974","unstructured":"Gass JD (1974) A clinicopathologic study of a peculiar foveomacular dystrophy. Trans Am Ophthalmol Soc 72:139\u2013156","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10093_CR18","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1016\/j.ophtha.2010.10.010","volume":"118","author":"I Meunier","year":"2011","unstructured":"Meunier I, S\u00e9n\u00e9chal A, Dhaenens CM et al (2011) Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology 118:1130\u20131136. https:\/\/doi.org\/10.1016\/j.ophtha.2010.10.010","journal-title":"Ophthalmology"},{"key":"10093_CR19","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.preteyeres.2015.02.001","volume":"47","author":"I Chowers","year":"2015","unstructured":"Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ (2015) Adult-onset foveomacular vitelliform dystrophy: a fresh perspective. Prog Retin Eye Res 47:64\u201385. https:\/\/doi.org\/10.1016\/j.preteyeres.2015.02.001","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR20","doi-asserted-by":"publisher","first-page":"2406","DOI":"10.1016\/j.ophtha.2014.06.028","volume":"121","author":"I Meunier","year":"2014","unstructured":"Meunier I, Manes G, Bocquet B et al (2014) Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology 121:2406\u20132414. https:\/\/doi.org\/10.1016\/j.ophtha.2014.06.028","journal-title":"Ophthalmology"},{"key":"10093_CR21","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/j.ajhg.2013.07.018","volume":"93","author":"G Manes","year":"2013","unstructured":"Manes G, Meunier I, Avila-Fern\u00e1ndez A et al (2013) Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet 93:571\u2013578. https:\/\/doi.org\/10.1016\/j.ajhg.2013.07.018","journal-title":"Am J Hum Genet"},{"key":"10093_CR22","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.63.5.27","volume":"63","author":"I V\u00e1zquez-Dom\u00ednguez","year":"2022","unstructured":"V\u00e1zquez-Dom\u00ednguez I, Li CHZ, Fadaie Z et al (2022) Identification of a complex allele in IMPG2 as a cause of adult-onset vitelliform macular dystrophy. Invest Ophthalmol Vis Sci 63:27. https:\/\/doi.org\/10.1167\/iovs.63.5.27","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR23","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1001\/archophthalmol.2012.1483","volume":"130","author":"T Jaouni","year":"2012","unstructured":"Jaouni T, Averbukh E, Burstyn-Cohen T et al (2012) Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism. Arch Ophthalmol 130:987\u2013991. https:\/\/doi.org\/10.1001\/archophthalmol.2012.1483","journal-title":"Arch Ophthalmol"},{"key":"10093_CR24","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/s10633-025-10027-0","volume":"151","author":"JA Alexis","year":"2025","unstructured":"Alexis JA, Ramakrishnan P, Kenworthy MK, Thompson JA, Chelva ES, Chen FK (2025) CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features. Doc Ophthalmol 151:239\u2013246. https:\/\/doi.org\/10.1007\/s10633-025-10027-0","journal-title":"Doc Ophthalmol"},{"key":"10093_CR25","first-page":"867","volume":"10","author":"SA Miller","year":"1978","unstructured":"Miller SA, Stevens TS, Myers F, Nieder M (1978) Pigmented paravenous retinochoroidal atrophy. Ann Ophthalmol 10:867\u2013871","journal-title":"Ann Ophthalmol"},{"key":"10093_CR26","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/s0002-9394(14)75947-1","volume":"85","author":"VC Smith","year":"1978","unstructured":"Smith VC, Pokorny J, Ernest JT, Starr SJ (1978) Visual function in acute posterior multifocal placoid pigment epitheliopathy. Am J Ophthalmol 85:192\u2013199. https:\/\/doi.org\/10.1016\/s0002-9394(14)75947-1","journal-title":"Am J Ophthalmol"},{"key":"10093_CR27","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/s0002-9394(14)72065-3","volume":"122","author":"MF Marmor","year":"1996","unstructured":"Marmor MF, McNamara JA (1996) Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula. Am J Ophthalmol 122:382\u2013392. https:\/\/doi.org\/10.1016\/s0002-9394(14)72065-3","journal-title":"Am J Ophthalmol"},{"issue":"Pt 5","key":"10093_CR28","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/eye.1996.134","volume":"10","author":"P Stavrou","year":"1996","unstructured":"Stavrou P, Good PA, Broadhurst EJ, Bundey S, Fielder AR, Crews SJ (1996) ERG and EOG abnormalities in carriers of X-linked retinitis pigmentosa. Eye 10(Pt 5):581\u2013589. https:\/\/doi.org\/10.1038\/eye.1996.134","journal-title":"Eye"},{"key":"10093_CR29","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/s0002-9394(14)71074-8","volume":"123","author":"RY Kim","year":"1997","unstructured":"Kim RY, Faktorovich EG, Kuo CY, Olson JL (1997) Retinal function abnormalities in membranoproliferative glomerulonephritis type II. Am J Ophthalmol 123:619\u2013628. https:\/\/doi.org\/10.1016\/s0002-9394(14)71074-8","journal-title":"Am J Ophthalmol"},{"key":"10093_CR30","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1097\/00006982-199709000-00008","volume":"17","author":"U Kellner","year":"1997","unstructured":"Kellner U, Weleber RG, Kennaway NG, Fishman GA, Foerster MH (1997) Gyrate atrophy-like phenotype with normal plasma ornithine. Retina 17:403\u2013413. https:\/\/doi.org\/10.1097\/00006982-199709000-00008","journal-title":"Retina"},{"key":"10093_CR31","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1136\/bjo.82.3.280","volume":"82","author":"T Eysteinsson","year":"1998","unstructured":"Eysteinsson T, J\u00f3nasson F, J\u00f3nsson V, Bird AC (1998) Helicoidal peripapillary chorioretinal degeneration: electrophysiology and psychophysics in 17 patients. Br J Ophthalmol 82:280\u2013285. https:\/\/doi.org\/10.1136\/bjo.82.3.280","journal-title":"Br J Ophthalmol"},{"key":"10093_CR32","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1007\/s10633-009-9179-4","volume":"119","author":"BL Lam","year":"2009","unstructured":"Lam BL, Lopez PF, Dubovy SR, Liu M (2009) Transient electro-oculogram impairment in unilateral acute idiopathic maculopathy. Doc Ophthalmol 119:157\u2013161. https:\/\/doi.org\/10.1007\/s10633-009-9179-4","journal-title":"Doc Ophthalmol"},{"key":"10093_CR33","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1080\/13816810.2021.2010771","volume":"43","author":"KW Small","year":"2022","unstructured":"Small KW, Jampol LM, Bakall B et al (2022) Best vitelliform macular dystrophy (BVMD) is a phenocopy of north carolina macular dystrophy (NCMD\/MCDR1). Ophthalmic Genet 43:307\u2013317. https:\/\/doi.org\/10.1080\/13816810.2021.2010771","journal-title":"Ophthalmic Genet"},{"key":"10093_CR34","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1097\/IAE.0000000000000736","volume":"36","author":"DA Thompson","year":"2016","unstructured":"Thompson DA, Constable PA, Liasis A, Walters B, Esteban MT (2016) The physiology of the retinal pigment epithelium in Danon disease. Retina 36:629\u2013638. https:\/\/doi.org\/10.1097\/IAE.0000000000000736","journal-title":"Retina"},{"key":"10093_CR35","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1186\/s13104-020-05131-0","volume":"13","author":"P Dahanayake","year":"2020","unstructured":"Dahanayake P, Dassanayake TL, Pathirage M, Senanayake S, Sedgwick M, Weerasinghe V (2020) Electro-oculography in bilateral optic neuropathy. BMC Res Notes 13:287. https:\/\/doi.org\/10.1186\/s13104-020-05131-0","journal-title":"BMC Res Notes"},{"key":"10093_CR36","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1212\/wnl.52.6.1201","volume":"52","author":"CF Arndt","year":"1999","unstructured":"Arndt CF, Derambure P, Defoort-Dhellemmes S, Hache JC (1999) Outer retinal dysfunction in patients treated with vigabatrin. Neurology 52:1201\u20131205. https:\/\/doi.org\/10.1212\/wnl.52.6.1201","journal-title":"Neurology"},{"key":"10093_CR37","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1136\/bjo.87.7.902","volume":"87","author":"AS Neubauer","year":"2003","unstructured":"Neubauer AS, Samari-Kermani K, Schaller U, Welge-L\u00fcbetaen U, Rudolph G, Berninger T (2003) Detecting chloroquine retinopathy: electro-oculogram versus colour vision. Br J Ophthalmol 87:902\u2013908. https:\/\/doi.org\/10.1136\/bjo.87.7.902","journal-title":"Br J Ophthalmol"},{"key":"10093_CR38","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1186\/s40064-015-1258-2","volume":"4","author":"L Wang","year":"2015","unstructured":"Wang L, Miao H, Li X (2015) Tamoxifen retinopathy: a case report. Springerplus 4:501. https:\/\/doi.org\/10.1186\/s40064-015-1258-2","journal-title":"Springerplus"},{"key":"10093_CR39","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.preteyeres.2009.04.002","volume":"28","author":"CJ Boon","year":"2009","unstructured":"Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI (2009) The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 28:187\u2013205. https:\/\/doi.org\/10.1016\/j.preteyeres.2009.04.002","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR40","doi-asserted-by":"publisher","first-page":"456","DOI":"10.1016\/j.ophtha.2016.11.022","volume":"124","author":"CX Qian","year":"2017","unstructured":"Qian CX, Charran D, Strong CR, Steffens TJ, Jayasundera T, Heckenlively JR (2017) Optical coherence tomography examination of the retinal pigment epithelium in best vitelliform macular dystrophy. Ophthalmology 124:456\u2013463. https:\/\/doi.org\/10.1016\/j.ophtha.2016.11.022","journal-title":"Ophthalmology"},{"key":"10093_CR41","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.ajo.2019.08.011","volume":"208","author":"E Augstburger","year":"2019","unstructured":"Augstburger E, Or\u00e8s R, Mohand-Said S et al (2019) Outer retinal alterations associated with visual outcomes in best vitelliform macular dystrophy. Am J Ophthalmol 208:429\u2013437. https:\/\/doi.org\/10.1016\/j.ajo.2019.08.011","journal-title":"Am J Ophthalmol"},{"key":"10093_CR42","doi-asserted-by":"publisher","first-page":"1597","DOI":"10.3390\/ijms21051597","volume":"21","author":"AL Nachtigal","year":"2020","unstructured":"Nachtigal AL, Milenkovic A, Brandl C et al (2020) Mutation-dependent pathomechanisms determine the phenotype in the bestrophinopathies. Int J Mol Sci 21:1597. https:\/\/doi.org\/10.3390\/ijms21051597","journal-title":"Int J Mol Sci"},{"key":"10093_CR43","doi-asserted-by":"publisher","first-page":"109217","DOI":"10.1016\/j.exer.2022.109217","volume":"223","author":"Y Wang","year":"2022","unstructured":"Wang Y, Jiang Y, Li X et al (2022) Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons. Exp Eye Res 223:109217. https:\/\/doi.org\/10.1016\/j.exer.2022.109217","journal-title":"Exp Eye Res"},{"key":"10093_CR44","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1186\/s12967-019-2080-3","volume":"17","author":"V Frecer","year":"2019","unstructured":"Frecer V, Iarossi G, Salvetti AP et al (2019) Pathogenicity of new BEST1 variants identified in Italian patients with Best vitelliform macular dystrophy assessed by computational structural biology. J Transl Med 17:330. https:\/\/doi.org\/10.1186\/s12967-019-2080-3","journal-title":"J Transl Med"},{"key":"10093_CR45","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1016\/j.ophtha.2024.01.027","volume":"131","author":"Y Laich","year":"2024","unstructured":"Laich Y, Georgiou M, Fujinami K et al (2024) Best Vitelliform Macular Dystrophy natural history study report 1: clinical features and genetic findings. Ophthalmology 131:845\u2013854. https:\/\/doi.org\/10.1016\/j.ophtha.2024.01.027","journal-title":"Ophthalmology"},{"key":"10093_CR46","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1016\/j.oret.2025.03.004","volume":"9","author":"Y Laich","year":"2025","unstructured":"Laich Y, Georgiou M, Fujinami K et al (2025) Best vitelliform macular dystrophy natural history study report 2: fundus autofluorescence and OCT. Ophthalmol Retina 9:899\u2013907. https:\/\/doi.org\/10.1016\/j.oret.2025.03.004","journal-title":"Ophthalmol Retina"},{"key":"10093_CR47","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/j.ajo.2012.02.036","volume":"154","author":"H Bitner","year":"2012","unstructured":"Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T (2012) Frequency, genotype, and clinical spectrum of Best vitelliform macular dystrophy: data from a national center in Denmark. Am J Ophthalmol 154:403-412.e4. https:\/\/doi.org\/10.1016\/j.ajo.2012.02.036","journal-title":"Am J Ophthalmol"},{"key":"10093_CR48","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/s10633-024-09994-7","volume":"149","author":"P Djukanovic","year":"2024","unstructured":"Djukanovic P, Jarc Vidmar M, Sustar Habjan M (2024) Screening electro-oculography protocol as a part of full-field electroretinography. Doc Ophthalmol 149:143\u2013150. https:\/\/doi.org\/10.1007\/s10633-024-09994-7","journal-title":"Doc Ophthalmol"},{"key":"10093_CR49","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1055\/s-0034-1396330","volume":"232","author":"C T\u00fcrksever","year":"2015","unstructured":"T\u00fcrksever C, Org\u00fcl S, Todorova MG (2015) Comparing short-duration electro-oculograms with and without mydriasis in healthy subjects. Klin Monbl Augenheilkd 232:471\u2013476. https:\/\/doi.org\/10.1055\/s-0034-1396330","journal-title":"Klin Monbl Augenheilkd"},{"key":"10093_CR50","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/978-981-97-0138-4_33","volume-title":"Ophthalmic diagnostics","author":"PA Constable","year":"2024","unstructured":"Constable PA (2024) The clinical electro-oculogram. In: Das T, Satgunam P (eds) Ophthalmic diagnostics. Springer, Singapore, pp 449\u2013461"},{"key":"10093_CR51","doi-asserted-by":"publisher","first-page":"2669","DOI":"10.1167\/iovs.14-13979","volume":"55","author":"PA Constable","year":"2014","unstructured":"Constable PA (2014) A perspective on the mechanism of the light-rise of the electrooculogram. Invest Ophthalmol Vis Sci 55:2669\u20132673. https:\/\/doi.org\/10.1167\/iovs.14-13979","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR52","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.preteyeres.2005.11.001","volume":"25","author":"GB Arden","year":"2006","unstructured":"Arden GB, Constable PA (2006) The electro-oculogram. Prog Retin Eye Res 25:207\u2013248. https:\/\/doi.org\/10.1016\/j.preteyeres.2005.11.001","journal-title":"Prog Retin Eye Res"},{"key":"10093_CR53","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1080\/13816810600677990","volume":"27","author":"P Schatz","year":"2006","unstructured":"Schatz P, Klar J, Andr\u00e9asson S, Ponjavic V, Dahl N (2006) Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet 27:51\u201356. https:\/\/doi.org\/10.1080\/13816810600677990","journal-title":"Ophthalmic Genet"},{"key":"10093_CR54","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1001\/archophthalmol.2009.148","volume":"127","author":"EH Sohn","year":"2009","unstructured":"Sohn EH, Francis PJ, Duncan JL et al (2009) Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing Best macular dystrophy. Arch Ophthalmol 127:913\u2013920. https:\/\/doi.org\/10.1001\/archophthalmol.2009.148","journal-title":"Arch Ophthalmol"},{"key":"10093_CR55","doi-asserted-by":"publisher","first-page":"4688","DOI":"10.1093\/hmg\/ddt316","volume":"22","author":"AA Johnson","year":"2013","unstructured":"Johnson AA, Lee YS, Stanton JB et al (2013) Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking. Hum Mol Genet 22:4688\u20134697. https:\/\/doi.org\/10.1093\/hmg\/ddt316","journal-title":"Hum Mol Genet"},{"key":"10093_CR56","doi-asserted-by":"publisher","first-page":"15121","DOI":"10.3390\/ijms140715121","volume":"14","author":"JA Doumanov","year":"2013","unstructured":"Doumanov JA, Zeitz C, Dominguez Gimenez P et al (2013) Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein. Int J Mol Sci 14:15121\u201315140. https:\/\/doi.org\/10.3390\/ijms140715121","journal-title":"Int J Mol Sci"},{"issue":"Pt 17","key":"10093_CR57","doi-asserted-by":"publisher","first-page":"2988","DOI":"10.1242\/jcs.085878","volume":"124","author":"VM Milenkovic","year":"2011","unstructured":"Milenkovic VM, R\u00f6hrl E, Weber BH, Strauss O (2011) Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance. J Cell Sci 124(Pt 17):2988\u20132996. https:\/\/doi.org\/10.1242\/jcs.085878","journal-title":"J Cell Sci"},{"key":"10093_CR58","doi-asserted-by":"publisher","first-page":"287","DOI":"10.4103\/sjopt.sjopt_175_23","volume":"37","author":"A Amato","year":"2023","unstructured":"Amato A, Wongchaisuwat N, Lamborn A et al (2023) Gene therapy in bestrophinopathies: insights from preclinical studies in preparation for clinical trials. Saudi J Ophthalmol 37:287\u2013295. https:\/\/doi.org\/10.4103\/sjopt.sjopt_175_23","journal-title":"Saudi J Ophthalmol"},{"key":"10093_CR59","doi-asserted-by":"publisher","first-page":"19026","DOI":"10.1038\/s41598-019-54892-7","volume":"9","author":"C Ji","year":"2019","unstructured":"Ji C, Li Y, Kittredge A et al (2019) Investigation and restoration of BEST1 activity in patient-derived RPEs with dominant mutations. Sci Rep 9:19026. https:\/\/doi.org\/10.1038\/s41598-019-54892-7","journal-title":"Sci Rep"},{"key":"10093_CR60","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1089\/hgtb.2018.267","volume":"30","author":"SR Wood","year":"2019","unstructured":"Wood SR, McClements ME, de la Martinez-Fernandez Camara C et al (2019) A quantitative chloride channel conductance assay for efficacy testing of AAV.BEST1. Hum Gene Ther Methods 30:44\u201352. https:\/\/doi.org\/10.1089\/hgtb.2018.267","journal-title":"Hum Gene Ther Methods"},{"key":"10093_CR61","doi-asserted-by":"publisher","DOI":"10.3791\/57832","author":"A Kittredge","year":"2018","unstructured":"Kittredge A, Ward N, Hopiavuori A, Zhang Y, Yang T (2018) Expression and purification of mammalian bestrophin ion channels. J Vis Exp. https:\/\/doi.org\/10.3791\/57832","journal-title":"J Vis Exp"},{"key":"10093_CR62","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1038\/mt.2015.177","volume":"23","author":"T Yang","year":"2015","unstructured":"Yang T, Justus S, Li Y, Tsang SH (2015) BEST1: the best target for gene and cell therapies. Mol Ther 23:1805\u20131809. https:\/\/doi.org\/10.1038\/mt.2015.177","journal-title":"Mol Ther"},{"key":"10093_CR63","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0075666","volume":"8","author":"KE Guziewicz","year":"2013","unstructured":"Guziewicz KE, Zangerl B, Kom\u00e1romy AM et al (2013) Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects. PLoS ONE 8:e75666. https:\/\/doi.org\/10.1371\/journal.pone.0075666","journal-title":"PLoS ONE"},{"key":"10093_CR64","doi-asserted-by":"publisher","first-page":"3317","DOI":"10.3390\/molecules28083317","volume":"28","author":"K Elverson","year":"2023","unstructured":"Elverson K, Warwicker J, Freeman S, Manson F (2023) Tadalafil rescues the p.M325T mutant of Best1 chloride channel. Molecules 28:3317. https:\/\/doi.org\/10.3390\/molecules28083317","journal-title":"Molecules"},{"key":"10093_CR65","doi-asserted-by":"publisher","first-page":"1317","DOI":"10.1242\/dmm.024216","volume":"9","author":"C Uggenti","year":"2016","unstructured":"Uggenti C, Briant K, Streit AK et al (2016) Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model. Dis Model Mech 9:1317\u20131328. https:\/\/doi.org\/10.1242\/dmm.024216","journal-title":"Dis Model Mech"},{"key":"10093_CR66","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1167\/iovs.61.5.28","volume":"61","author":"J Liu","year":"2020","unstructured":"Liu J, Taylor RL, Baines RA et al (2020) Small molecules restore bestrophin 1 expression and function of both dominant and recessive bestrophinopathies in patient-derived retinal pigment epithelium. Invest Ophthalmol Vis Sci 61:28. https:\/\/doi.org\/10.1167\/iovs.61.5.28","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR67","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1177\/0963689719860130","volume":"28","author":"TC Lin","year":"2019","unstructured":"Lin TC, Lin YY, Hsu CC et al (2019) Nanomedicine-based curcumin approach improved ROS damage in Best dystrophy-specific induced pluripotent stem cells. Cell Transplant 28:1345\u20131357. https:\/\/doi.org\/10.1177\/0963689719860130","journal-title":"Cell Transplant"},{"key":"10093_CR68","doi-asserted-by":"publisher","first-page":"514","DOI":"10.3129\/i10-028","volume":"45","author":"TK Lee","year":"2010","unstructured":"Lee TK, Clandinin MT, H\u00e9bert M, MacDonald IM (2010) Effect of docosahexaenoic acid supplementation on the macular function of patients with best vitelliform macular dystrophy: randomized clinical trial. Can J Ophthalmol 45:514\u2013519. https:\/\/doi.org\/10.3129\/i10-028","journal-title":"Can J Ophthalmol"},{"key":"10093_CR69","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/bs.mie.2021.01.004","volume":"654","author":"A Kittredge","year":"2021","unstructured":"Kittredge A, Zhang Y, Yang T (2021) Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells. Methods Enzymol 654:365\u2013382. https:\/\/doi.org\/10.1016\/bs.mie.2021.01.004","journal-title":"Methods Enzymol"},{"key":"10093_CR70","doi-asserted-by":"publisher","first-page":"2251","DOI":"10.1007\/s00417-020-04636-5","volume":"258","author":"T Gao","year":"2020","unstructured":"Gao T, Tian C, Xu H, Tang X, Huang L, Zhao M (2020) Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells. Graefes Arch Clin Exp Ophthalmol 258:2251\u20132261. https:\/\/doi.org\/10.1007\/s00417-020-04636-5","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10093_CR71","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1093\/hmg\/dds469","volume":"22","author":"R Singh","year":"2013","unstructured":"Singh R, Shen W, Kuai D et al (2013) iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration. Hum Mol Genet 22:593\u2013607. https:\/\/doi.org\/10.1093\/hmg\/dds469","journal-title":"Hum Mol Genet"},{"key":"10093_CR72","doi-asserted-by":"publisher","first-page":"57791","DOI":"10.3791\/57791","volume":"2018","author":"A Kittredge","year":"2018","unstructured":"Kittredge A, Ji C, Zhang Y, Yang T (2018) Differentiation, maintenance, and analysis of human retinal pigment epithelium cells: a disease-in-a-dish model for BEST1 mutations. J Vis Exp 2018:57791. https:\/\/doi.org\/10.3791\/57791","journal-title":"J Vis Exp"},{"key":"10093_CR73","doi-asserted-by":"publisher","first-page":"4487","DOI":"10.1038\/s41598-018-21651-z","volume":"8","author":"AD Marmorstein","year":"2018","unstructured":"Marmorstein AD, Johnson AA, Bachman LA et al (2018) Mutant Best1 expression and impaired phagocytosis in an iPSC model of autosomal recessive bestrophinopathy. Sci Rep 8:4487. https:\/\/doi.org\/10.1038\/s41598-018-21651-z","journal-title":"Sci Rep"},{"key":"10093_CR74","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.29914","volume":"6","author":"Y Li","year":"2017","unstructured":"Li Y, Zhang Y, Xu Y et al (2017) Patient-specific mutations impair BESTROPHIN1\u2019s essential role in mediating Ca2+-dependent Cl- currents in human RPE. Elife 6:e29914. https:\/\/doi.org\/10.7554\/eLife.29914","journal-title":"Elife"},{"key":"10093_CR75","doi-asserted-by":"publisher","first-page":"2672","DOI":"10.1093\/hmg\/ddw126","volume":"25","author":"Y Moshfegh","year":"2016","unstructured":"Moshfegh Y, Velez G, Li Y, Bassuk AG, Mahajan VB, Tsang SH (2016) BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE. Hum Mol Genet 25:2672\u20132680. https:\/\/doi.org\/10.1093\/hmg\/ddw126","journal-title":"Hum Mol Genet"},{"key":"10093_CR76","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.67622","volume":"10","author":"Q Zhao","year":"2021","unstructured":"Zhao Q, Kong Y, Kittredge A et al (2021) Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations. Elife 10:e67622. https:\/\/doi.org\/10.7554\/eLife.67622","journal-title":"Elife"},{"key":"10093_CR77","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1007\/978-3-319-75402-4_38","volume":"1074","author":"KE Guziewicz","year":"2018","unstructured":"Guziewicz KE, McTish E, Dufour VL et al (2018) Underdeveloped RPE apical domain underlies lesion formation in canine bestrophinopathies. Adv Exp Med Biol 1074:309\u2013315. https:\/\/doi.org\/10.1007\/978-3-319-75402-4_38","journal-title":"Adv Exp Med Biol"},{"key":"10093_CR78","first-page":"811","volume":"12","author":"SA Zhuk","year":"2006","unstructured":"Zhuk SA, Edwards AO (2006) Peripherin\/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion. Mol Vis 12:811\u2013815","journal-title":"Mol Vis"},{"key":"10093_CR79","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1016\/j.oret.2022.12.008","volume":"7","author":"L Bianco","year":"2023","unstructured":"Bianco L, Arrigo A, Antropoli A et al (2023) PRPH2-Associated retinopathy: Novel variants and genotype-phenotype correlations. Ophthalmol Retina 7:450\u2013461. https:\/\/doi.org\/10.1016\/j.oret.2022.12.008","journal-title":"Ophthalmol Retina"},{"key":"10093_CR80","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1096\/fj.05-4495fje","volume":"20","author":"R Rosenthal","year":"2006","unstructured":"Rosenthal R, Bakall B, Kinnick T et al (2006) Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. FASEB J 20:178\u2013180. https:\/\/doi.org\/10.1096\/fj.05-4495fje","journal-title":"FASEB J"},{"key":"10093_CR81","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/s00424-010-0840-2","volume":"460","author":"R Neussert","year":"2010","unstructured":"Neussert R, M\u00fcller C, Milenkovic VM, Strauss O (2010) The presence of bestrophin-1 modulates the Ca2+ recruitment from Ca2+ stores in the ER. Pflugers Arch 460:163\u2013175. https:\/\/doi.org\/10.1007\/s00424-010-0840-2","journal-title":"Pflugers Arch"},{"key":"10093_CR82","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.ajo.2016.05.024","volume":"169","author":"R Arora","year":"2016","unstructured":"Arora R, Khan K, Kasilian ML et al (2016) Unilateral BEST1-associated retinopathy. Am J Ophthalmol 169:24\u201332. https:\/\/doi.org\/10.1016\/j.ajo.2016.05.024","journal-title":"Am J Ophthalmol"},{"key":"10093_CR83","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1177\/11206721231166434","volume":"34","author":"L Bianco","year":"2024","unstructured":"Bianco L, Arrigo A, Antropoli A et al (2024) Multimodal imaging in best vitelliform macular dystrophy: literature review and novel insights. Eur J Ophthalmol 34:39\u201351. https:\/\/doi.org\/10.1177\/11206721231166434","journal-title":"Eur J Ophthalmol"},{"key":"10093_CR84","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1007\/s10633-025-10008-3","volume":"150","author":"D Ratra","year":"2025","unstructured":"Ratra D, Karra A (2025) Unilateral best vitelliform macular dystrophy- a case series. Doc Ophthalmol 150:111\u2013116. https:\/\/doi.org\/10.1007\/s10633-025-10008-3","journal-title":"Doc Ophthalmol"},{"key":"10093_CR85","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-025-10056-9","author":"Y Tatemoto","year":"2025","unstructured":"Tatemoto Y, Hayashi T, Mizobuchi K, Den S, Nakano T (2025) Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy. Doc Ophthalmol. https:\/\/doi.org\/10.1007\/s10633-025-10056-9","journal-title":"Doc Ophthalmol"},{"key":"10093_CR86","doi-asserted-by":"publisher","first-page":"2083","DOI":"10.1007\/s00417-018-4120-8","volume":"256","author":"V Kumar","year":"2018","unstructured":"Kumar V, Chatra K (2018) Fibrotic pillar leads to focal choroidal excavation in best vitelliform dystrophy. Graefes Arch Clin Exp Ophthalmol 256:2083\u20132087. https:\/\/doi.org\/10.1007\/s00417-018-4120-8","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10093_CR87","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1097\/ICB.0000000000000068","volume":"9","author":"R Nourinia","year":"2015","unstructured":"Nourinia R, Roshandel D, Lima BS, Sayanjali S (2015) Best disease associated with macular hole. Retin Cases Brief Rep 9:7\u201312. https:\/\/doi.org\/10.1097\/ICB.0000000000000068","journal-title":"Retin Cases Brief Rep"},{"key":"10093_CR88","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1097\/ICB.0b013e318223d24ds","volume":"6","author":"MC Pozzoni","year":"2012","unstructured":"Pozzoni MC, Fine HF, Ferrara DC, Klancnik JM Jr, Engelbert M, Yannuzzi LA (2012) Peripapillary choroidal neovascularization in best disease. Retin Cases Brief Rep 6:176\u2013178. https:\/\/doi.org\/10.1097\/ICB.0b013e318223d24ds","journal-title":"Retin Cases Brief Rep"},{"key":"10093_CR89","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.ajo.2008.05.029","volume":"146","author":"G Querques","year":"2008","unstructured":"Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH (2008) High-definition optical coherence tomography features in vitelliform macular dystrophy. Am J Ophthalmol 146:501\u2013507. https:\/\/doi.org\/10.1016\/j.ajo.2008.05.029","journal-title":"Am J Ophthalmol"},{"key":"10093_CR90","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1007\/s00417-015-3025-z","volume":"254","author":"P Schatz","year":"2016","unstructured":"Schatz P, Sharon D, Al-Hamdani S, Andr\u00e9asson S, Larsen M (2016) Retinal structure in young patients aged 10 years or less with best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 254:215\u2013221. https:\/\/doi.org\/10.1007\/s00417-015-3025-z","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10093_CR91","doi-asserted-by":"publisher","first-page":"4678","DOI":"10.1167\/iovs.10-6500","volume":"52","author":"G Querques","year":"2011","unstructured":"Querques G, Zerbib J, Santacroce R et al (2011) The spectrum of subclinical best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. Invest Ophthalmol Vis Sci 52:4678\u20134684. https:\/\/doi.org\/10.1167\/iovs.10-6500","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR92","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/978-3-319-17121-0_38","volume":"854","author":"JR Sparrow","year":"2016","unstructured":"Sparrow JR, Duncker T, Woods R, Delori FC (2016) Quantitative fundus autofluorescence in best vitelliform macular dystrophy: RPE lipofuscin is not increased in non-lesion areas of retina. Adv Exp Med Biol 854:285\u2013290. https:\/\/doi.org\/10.1007\/978-3-319-17121-0_38","journal-title":"Adv Exp Med Biol"},{"key":"10093_CR93","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.exer.2007.02.018","volume":"85","author":"B Bakall","year":"2007","unstructured":"Bakall B, Radu RA, Stanton JB et al (2007) Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res 85:34\u201343. https:\/\/doi.org\/10.1016\/j.exer.2007.02.018","journal-title":"Exp Eye Res"},{"key":"10093_CR94","doi-asserted-by":"publisher","first-page":"5553","DOI":"10.1167\/iovs.08-2093","volume":"49","author":"S Maia-Lopes","year":"2008","unstructured":"Maia-Lopes S, Silva ED, Reis A, Silva MF, Mateus C, Castelo-Branco M (2008) Retinal function in best macular dystrophy: relationship between electrophysiological, psychophysical, and structural measures of damage. Invest Ophthalmol Vis Sci 49:5553\u20135560. https:\/\/doi.org\/10.1167\/iovs.08-2093","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR95","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1001\/archophthalmol.2011.363","volume":"130","author":"CN Kay","year":"2012","unstructured":"Kay CN, Abramoff MD, Mullins RF et al (2012) Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy. Arch Ophthalmol 130:357\u2013364. https:\/\/doi.org\/10.1001\/archophthalmol.2011.363","journal-title":"Arch Ophthalmol"},{"key":"10093_CR96","doi-asserted-by":"publisher","first-page":"2012","DOI":"10.1167\/iovs.19-26571","volume":"60","author":"JR de Carvalho","year":"2019","unstructured":"de Carvalho JR, Paavo M, Chen L, Chiang J, Tsang SH, Sparrow JR (2019) Multimodal imaging in best vitelliform macular dystrophy. Invest Ophthalmol Vis Sci 60:2012\u20132022. https:\/\/doi.org\/10.1167\/iovs.19-26571","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR97","doi-asserted-by":"publisher","first-page":"79","DOI":"10.3109\/13816810.2015.1126614","volume":"38","author":"J Liu","year":"2017","unstructured":"Liu J, Xuan Y, Zhang Y, Liu W, Xu G (2017) Bilateral macular holes and a new onset vitelliform lesion in best disease. Ophthalmic Genet 38:79\u201382. https:\/\/doi.org\/10.3109\/13816810.2015.1126614","journal-title":"Ophthalmic Genet"},{"key":"10093_CR98","doi-asserted-by":"publisher","first-page":"e8","DOI":"10.3928\/23258160-20140205-01","volume":"45","author":"MB Parodi","year":"2014","unstructured":"Parodi MB, Zucchiatti I, Fasce F, Bandello F (2014) Bilateral choroidal excavation in best vitelliform macular dystrophy. Ophthalmic Surg Lasers Imaging Retina 45:e8\u2013e10. https:\/\/doi.org\/10.3928\/23258160-20140205-01","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"10093_CR99","first-page":"2272","volume":"2011","author":"S Low","year":"2011","unstructured":"Low S, Davidson AE, Holder GE et al (2011) Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis 2011:2272\u20132282","journal-title":"Mol Vis"},{"key":"10093_CR100","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2024.05.007","volume":"8","author":"V Gupta","year":"2024","unstructured":"Gupta V, Chawla R, Kumar V (2024) Bull\u2019s-eye maculopathy in best vitelliform dystrophy. Ophthalmol Retina 8:e51. https:\/\/doi.org\/10.1016\/j.oret.2024.05.007","journal-title":"Ophthalmol Retina"},{"key":"10093_CR101","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1097\/ICB.0000000000001520","volume":"19","author":"S Singuri","year":"2025","unstructured":"Singuri S, DeBenedictis MJ, Traboulsi EI, Yuan A, Schur RM (2025) BEST1 variant associated with an atypical macular and peripheral retinal phenotype. Retin Cases Brief Rep 19:129\u2013134. https:\/\/doi.org\/10.1097\/ICB.0000000000001520","journal-title":"Retin Cases Brief Rep"},{"key":"10093_CR102","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1097\/IAE.0000000000000950","volume":"36","author":"L Toto","year":"2016","unstructured":"Toto L, Boon CJ, Antonio D et al (2016) Bestrophinopathy: a spectrum of ocular abnormalities caused by the c.614T>C mutation in the BEST1 gene. Retina 36:1586\u20131595. https:\/\/doi.org\/10.1097\/IAE.0000000000000950","journal-title":"Retina"},{"key":"10093_CR103","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1097\/IAE.0b013e3181c700c1","volume":"30","author":"RL Wong","year":"2010","unstructured":"Wong RL, Hou P, Choy KW et al (2010) Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. Retina 30:820\u2013827. https:\/\/doi.org\/10.1097\/IAE.0b013e3181c700c1","journal-title":"Retina"},{"key":"10093_CR104","doi-asserted-by":"publisher","first-page":"1471","DOI":"10.1167\/iovs.13-13834","volume":"55","author":"T Duncker","year":"2014","unstructured":"Duncker T, Greenberg JP, Ramachandran R et al (2014) Quantitative fundus autofluorescence and optical coherence tomography in Best vitelliform macular dystrophy. Invest Ophthalmol Vis Sci 55:1471\u20131482. https:\/\/doi.org\/10.1167\/iovs.13-13834","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR105","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1007\/s003470050107","volume":"94","author":"M Theischen","year":"1997","unstructured":"Theischen M, Schilling H, Steinhorst UH (1997) EOG in adult vitelliform macular degeneration, butterfly-shaped pattern dystrophy and Best disease. Ophthalmologe 94:230\u2013233. https:\/\/doi.org\/10.1007\/s003470050107","journal-title":"Ophthalmologe"},{"key":"10093_CR106","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1023\/a:1017963015883","volume":"103","author":"M Jarc-Vidmar","year":"2001","unstructured":"Jarc-Vidmar M, Popovi\u0107 P, Hawlina M, Brecelj J (2001) Pattern ERG and psychophysical functions in best\u2019s disease. Doc Ophthalmol 103:47\u201361. https:\/\/doi.org\/10.1023\/a:1017963015883","journal-title":"Doc Ophthalmol"},{"key":"10093_CR107","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-025-10064-9","author":"A Polosa","year":"2025","unstructured":"Polosa A, Lu M, Dorfman AL, Masis-Solano M, Costantino S, Qian CX (2025) Characterization of functional and structural impairments in Best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients. Doc Ophthalmol. https:\/\/doi.org\/10.1007\/s10633-025-10064-9","journal-title":"Doc Ophthalmol"},{"key":"10093_CR108","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/BF00142687","volume":"76","author":"WJ Power","year":"1990","unstructured":"Power WJ, Coleman K, Curtin DM, Mooney DJ (1990) The pattern ERG in Best\u2019s disease. Doc Ophthalmol 76:279\u2013284. https:\/\/doi.org\/10.1007\/BF00142687","journal-title":"Doc Ophthalmol"},{"key":"10093_CR109","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1001\/archopht.1982.01030030274008","volume":"100","author":"SJ Kaufman","year":"1982","unstructured":"Kaufman SJ, Goldberg MF, Orth DH, Fishman GA, Tessler H, Mizuno K (1982) Autosomal dominant vitreoretinochoroidopathy. Arch Ophthalmol 100:272\u2013278. https:\/\/doi.org\/10.1001\/archopht.1982.01030030274008","journal-title":"Arch Ophthalmol"},{"key":"10093_CR110","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1080\/13816810.2024.2368797","volume":"45","author":"A Mainguy","year":"2024","unstructured":"Mainguy A, Dhaenens CM, Poncet A et al (2024) Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1. Ophthalmic Genet 45:470\u2013475. https:\/\/doi.org\/10.1080\/13816810.2024.2368797","journal-title":"Ophthalmic Genet"},{"key":"10093_CR111","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1038\/eye.2010.165","volume":"25","author":"A Vincent","year":"2011","unstructured":"Vincent A, McAlister C, Vandenhoven C, H\u00e9on E (2011) BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. Eye 25:113\u2013118. https:\/\/doi.org\/10.1038\/eye.2010.165","journal-title":"Eye"},{"key":"10093_CR112","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s00417-017-3810-y","volume":"256","author":"L W\u00f6ster","year":"2018","unstructured":"W\u00f6ster L, Roider J (2018) Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). Graefes Arch Clin Exp Ophthalmol 256:441\u2013442. https:\/\/doi.org\/10.1007\/s00417-017-3810-y","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"10093_CR113","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1001\/archopht.1993.01090020048021","volume":"111","author":"EI Traboulsi","year":"1993","unstructured":"Traboulsi EI, Payne JW (1993) Autosomal dominant vitreoretinochoroidopathy. Report of the third family. Arch Ophthalmol 111:194\u2013196. https:\/\/doi.org\/10.1001\/archopht.1993.01090020048021","journal-title":"Arch Ophthalmol"},{"key":"10093_CR114","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N","volume":"15","author":"K White","year":"2000","unstructured":"White K, Marquardt A, Weber BH (2000) VMD2 mutations in vitelliform macular dystrophy (best disease) and other maculopathies. Hum Mutat 15:301\u2013308. https:\/\/doi.org\/10.1002\/(SICI)1098-1004(200004)15:4%3c301::AID-HUMU1%3e3.0.CO;2-N","journal-title":"Hum Mutat"},{"key":"10093_CR115","doi-asserted-by":"publisher","first-page":"104097","DOI":"10.1016\/j.jfo.2024.104097","volume":"47","author":"K Tekin","year":"2024","unstructured":"Tekin K, Dulger SC, Horozoglu Ceran T, Inanc M, Ozdal PC, Teke MY (2024) Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy. J Fr Ophtalmol 47:104097. https:\/\/doi.org\/10.1016\/j.jfo.2024.104097","journal-title":"J Fr Ophtalmol"},{"key":"10093_CR116","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000038853","volume":"103","author":"M Miura","year":"2024","unstructured":"Miura M, Makita S, Yasuno Y et al (2024) Multimodal imaging analysis of autosomal recessive bestrophinopathy: case series. Medicine 103:e38853. https:\/\/doi.org\/10.1097\/MD.0000000000038853","journal-title":"Medicine"},{"key":"10093_CR117","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.ajhg.2007.08.004","volume":"82","author":"R Burgess","year":"2008","unstructured":"Burgess R, Millar ID, Leroy BP et al (2008) Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82:19\u201331. https:\/\/doi.org\/10.1016\/j.ajhg.2007.08.004","journal-title":"Am J Hum Genet"},{"key":"10093_CR118","doi-asserted-by":"publisher","first-page":"6674290","DOI":"10.1155\/2021\/6674290","volume":"2021","author":"H Khojasteh","year":"2021","unstructured":"Khojasteh H, Azarmina M, Ebrahimiadib N et al (2021) Autosomal recessive bestrophinopathy: clinical and genetic characteristics of twenty-four cases. J Ophthalmol 2021:6674290. https:\/\/doi.org\/10.1155\/2021\/6674290","journal-title":"J Ophthalmol"},{"key":"10093_CR119","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1016\/j.ophtha.2020.10.006","volume":"128","author":"G Casalino","year":"2021","unstructured":"Casalino G, Khan KN, Armengol M et al (2021) Autosomal recessive bestrophinopathy: clinical features, natural history, and genetic findings in preparation for clinical trials. Ophthalmology 128:706\u2013718. https:\/\/doi.org\/10.1016\/j.ophtha.2020.10.006","journal-title":"Ophthalmology"},{"key":"10093_CR120","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1007\/s11596-024-2865-3","volume":"44","author":"JX Li","year":"2024","unstructured":"Li JX, Meng LR, Hou BK et al (2024) Detection of novel BEST1 variations in autosomal recessive bestrophinopathy using third-generation sequencing. Curr Med Sci 44:419\u2013425. https:\/\/doi.org\/10.1007\/s11596-024-2865-3","journal-title":"Curr Med Sci"},{"key":"10093_CR121","doi-asserted-by":"publisher","first-page":"8141","DOI":"10.1167\/iovs.15-18168","volume":"56","author":"CS Lee","year":"2015","unstructured":"Lee CS, Jun I, Choi SI et al (2015) A novel BEST1 mutation in autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci 56:8141\u20138150. https:\/\/doi.org\/10.1167\/iovs.15-18168","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR122","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1167\/iovs.11-7964","volume":"53","author":"E Pomares","year":"2012","unstructured":"Pomares E, Bur\u00e9s-Jelstrup A, Ruiz-Nogales S, Corc\u00f3stegui B, Gonz\u00e1lez-Duarte R, Navarro R (2012) Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families. Invest Ophthalmol Vis Sci 53:532\u2013537. https:\/\/doi.org\/10.1167\/iovs.11-7964","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR123","doi-asserted-by":"publisher","first-page":"4619","DOI":"10.1167\/iovs.15-16910","volume":"56","author":"AA Johnson","year":"2015","unstructured":"Johnson AA, Bachman LA, Gilles BJ et al (2015) Autosomal recessive bestrophinopathy is not associated with the loss of bestrophin-1 anion channel function in a patient with a novel BEST1 mutation. Invest Ophthalmol Vis Sci 56:4619\u20134630. https:\/\/doi.org\/10.1167\/iovs.15-16910","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR124","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1097\/00006982-200412000-00014","volume":"24","author":"AB Renner","year":"2004","unstructured":"Renner AB, Tillack H, Kraus H et al (2004) Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina 24:929\u2013939. https:\/\/doi.org\/10.1097\/00006982-200412000-00014","journal-title":"Retina"},{"key":"10093_CR125","doi-asserted-by":"publisher","first-page":"1237788","DOI":"10.3389\/fopht.2023.1237788","volume":"3","author":"GE Nipp","year":"2023","unstructured":"Nipp GE, Lee T, Sarici K, Malek G, Hadziahmetovic M (2023) Adult-onset foveomacular vitelliform dystrophy: epidemiology, pathophysiology, imaging, and prognosis. Front Ophthalmol 3:1237788. https:\/\/doi.org\/10.3389\/fopht.2023.1237788","journal-title":"Front Ophthalmol"},{"key":"10093_CR126","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1136\/bjophthalmol-2015-307658","volume":"100","author":"L Tiosano","year":"2016","unstructured":"Tiosano L, Grunin M, Hagbi-Levi S, Banin E, Averbukh E, Chowers I (2016) Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. Br J Ophthalmol 100:1476\u20131481. https:\/\/doi.org\/10.1136\/bjophthalmol-2015-307658","journal-title":"Br J Ophthalmol"},{"key":"10093_CR127","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1016\/j.ajo.2011.01.047","volume":"152","author":"G Querques","year":"2011","unstructured":"Querques G, Forte R, Querques L, Massamba N, Souied EH (2011) Natural course of adult-onset foveomacular vitelliform dystrophy: a spectral-domain optical coherence tomography analysis. Am J Ophthalmol 152:304\u2013313. https:\/\/doi.org\/10.1016\/j.ajo.2011.01.047","journal-title":"Am J Ophthalmol"},{"key":"10093_CR128","doi-asserted-by":"publisher","first-page":"958","DOI":"10.1001\/archopht.1988.01060140104034","volume":"106","author":"GJ Jaffe","year":"1988","unstructured":"Jaffe GJ, Schatz H (1988) Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy. Arch Ophthalmol 106:958\u2013960. https:\/\/doi.org\/10.1001\/archopht.1988.01060140104034","journal-title":"Arch Ophthalmol"},{"key":"10093_CR129","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1016\/s0161-6420(85)34097-6","volume":"92","author":"JR Patrinely","year":"1985","unstructured":"Patrinely JR, Lewis RA, Font RL (1985) Foveomacular vitelliform dystrophy, adult type. A clinicopathologic study including electron microscopic observations. Ophthalmology 92:1712\u20131718. https:\/\/doi.org\/10.1016\/s0161-6420(85)34097-6","journal-title":"Ophthalmology"},{"key":"10093_CR130","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1038\/sj.eye.6700460","volume":"17","author":"JJ Arnold","year":"2003","unstructured":"Arnold JJ, Sarks JP, Killingsworth MC, Kettle EK, Sarks SH (2003) Adult vitelliform macular degeneration: a clinicopathological study. Eye 17:717\u2013726. https:\/\/doi.org\/10.1038\/sj.eye.6700460","journal-title":"Eye"},{"key":"10093_CR131","first-page":"638","volume":"20","author":"SR Dubovy","year":"2000","unstructured":"Dubovy SR, Hairston RJ, Schatz H et al (2000) Adult-onset foveomacular pigment epithelial dystrophy: clinicopathologic correlation of three cases. Retina 20:638\u2013649","journal-title":"Retina"},{"key":"10093_CR132","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1136\/bjo.87.6.758","volume":"87","author":"W Saito","year":"2003","unstructured":"Saito W, Yamamoto S, Hayashi M, Ogata K (2003) Morphological and functional analyses of adult onset vitelliform macular dystrophy. Br J Ophthalmol 87:758\u2013762. https:\/\/doi.org\/10.1136\/bjo.87.6.758","journal-title":"Br J Ophthalmol"},{"key":"10093_CR133","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s40123-023-00862-2","volume":"13","author":"AS Brar","year":"2024","unstructured":"Brar AS, Parameswarappa DC, Takkar B et al (2024) Gene therapy for inherited retinal diseases: from laboratory bench to patient bedside and beyond. Ophthalmol Ther 13:21\u201350. https:\/\/doi.org\/10.1007\/s40123-023-00862-2","journal-title":"Ophthalmol Ther"},{"key":"10093_CR134","doi-asserted-by":"publisher","first-page":"1959","DOI":"10.1167\/iovs.06-1374","volume":"48","author":"KE Guziewicz","year":"2007","unstructured":"Guziewicz KE, Zangerl B, Lindauer SJ et al (2007) Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci 48:1959\u20131967. https:\/\/doi.org\/10.1167\/iovs.06-1374","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10093_CR135","doi-asserted-by":"publisher","first-page":"E2839","DOI":"10.1073\/pnas.1720662115","volume":"115","author":"KE Guziewicz","year":"2018","unstructured":"Guziewicz KE, Cideciyan AV, Beltran WA et al (2018) BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. Proc Natl Acad Sci U S A 115:E2839\u2013E2848. https:\/\/doi.org\/10.1073\/pnas.1720662115","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10093_CR136","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1085\/jgp.200509473","volume":"127","author":"LY Marmorstein","year":"2006","unstructured":"Marmorstein LY, Wu J, McLaughlin P et al (2006) The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol 127:577\u2013589. https:\/\/doi.org\/10.1085\/jgp.200509473","journal-title":"J Gen Physiol"},{"key":"10093_CR137","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1093\/hmg\/ddp583","volume":"19","author":"Y Zhang","year":"2010","unstructured":"Zhang Y, Stanton JB, Wu J et al (2010) Suppression of Ca2+ signaling in a mouse model of best disease. Hum Mol Genet 19:1108\u20131118. https:\/\/doi.org\/10.1093\/hmg\/ddp583","journal-title":"Hum Mol Genet"},{"key":"10093_CR138","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.190807","volume":"10","author":"W Yi","year":"2025","unstructured":"Yi W, Xu M, Xue Y et al (2025) A spontaneous nonhuman primate model of inherited retinal degeneration. JCI Insight 10:e190807. https:\/\/doi.org\/10.1172\/jci.insight.190807","journal-title":"JCI Insight"},{"key":"10093_CR139","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1016\/j.ajhg.2020.06.011","volume":"107","author":"D Sinha","year":"2020","unstructured":"Sinha D, Steyer B, Shahi PK et al (2020) Human iPSC modeling reveals mutation-specific responses to gene therapy in a genotypically diverse dominant maculopathy. Am J Hum Genet 107:278\u2013292. https:\/\/doi.org\/10.1016\/j.ajhg.2020.06.011","journal-title":"Am J Hum Genet"},{"key":"10093_CR140","doi-asserted-by":"publisher","first-page":"1700","DOI":"10.1038\/mt.2015.141","volume":"23","author":"R Singh","year":"2015","unstructured":"Singh R, Kuai D, Guziewicz KE et al (2015) Pharmacological modulation of photoreceptor outer segment degradation in a human iPS cell model of inherited macular degeneration. Mol Ther 23:1700\u20131711. https:\/\/doi.org\/10.1038\/mt.2015.141","journal-title":"Mol Ther"},{"key":"10093_CR141","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1136\/bjo.46.8.449","volume":"46","author":"GB Arden","year":"1962","unstructured":"Arden GB, Barrada A, Kelsey JH (1962) New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol 46:449\u2013467. https:\/\/doi.org\/10.1136\/bjo.46.8.449","journal-title":"Br J Ophthalmol"},{"key":"10093_CR142","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/BF01203280","volume":"84","author":"MR Lessel","year":"1993","unstructured":"Lessel MR, Thaler A, Scheiber V, Heilig P (1993) The dark trough in clinical electro-oculography. Influence of preadaptation on amplitudes and latencies. Doc Ophthalmol 84:31\u201338. https:\/\/doi.org\/10.1007\/BF01203280","journal-title":"Doc Ophthalmol"},{"key":"10093_CR143","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1113\/jphysiol.1962.sp006882","volume":"161","author":"GB Arden","year":"1962","unstructured":"Arden GB, Kelsey JH (1962) Some observations on the relationship between the standing potential of the human eye and the bleaching and regeneration of visual purple. J Physiol 161:205\u2013226. https:\/\/doi.org\/10.1113\/jphysiol.1962.sp006882","journal-title":"J Physiol"},{"key":"10093_CR144","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1001\/archopht.1993.01090050035023","volume":"111","author":"MF Marmor","year":"1993","unstructured":"Marmor MF, Zrenner E (1993) Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision. Arch Ophthalmol 111:601\u2013604. https:\/\/doi.org\/10.1001\/archopht.1993.01090050035023","journal-title":"Arch Ophthalmol"},{"key":"10093_CR145","first-page":"161","volume":"12","author":"WR Miles","year":"1939","unstructured":"Miles WR (1939) Experimental modification of the polarity potential of the human eye. Yale J Biol Med 12:161\u2013183","journal-title":"Yale J Biol Med"},{"key":"10093_CR146","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1113\/jphysiol.1982.sp014395","volume":"331","author":"ER Griff","year":"1982","unstructured":"Griff ER, Steinberg RH (1982) Origin of the light peak: in vitro study of Gekko gekko. J Physiol 331:637\u2013652. https:\/\/doi.org\/10.1113\/jphysiol.1982.sp014395","journal-title":"J Physiol"},{"key":"10093_CR147","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s10633-017-9616-8","volume":"135","author":"PA Constable","year":"2017","unstructured":"Constable PA, Ngo D, Quinn S, Thompson DA (2017) A meta-analysis of clinical electro-oculography values. Doc Ophthalmol 135:219\u2013232. https:\/\/doi.org\/10.1007\/s10633-017-9616-8","journal-title":"Doc Ophthalmol"},{"key":"10093_CR148","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/0042-6989(86)90005-2","volume":"26","author":"D van Norren","year":"1986","unstructured":"van Norren D, Heynen H (1986) Origin of the fast oscillation in the electroretinogram of the macaque. Vision Res 26:569\u2013575. https:\/\/doi.org\/10.1016\/0042-6989(86)90005-2","journal-title":"Vision Res"},{"key":"10093_CR149","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1085\/jgp.83.2.213","volume":"83","author":"RA Linsenmeier","year":"1984","unstructured":"Linsenmeier RA, Steinberg RH (1984) Delayed basal hyperpolarization of cat retinal pigment epithelium and its relation to the fast oscillation of the DC electroretinogram. J Gen Physiol 83:213\u2013232. https:\/\/doi.org\/10.1085\/jgp.83.2.213","journal-title":"J Gen Physiol"},{"key":"10093_CR150","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1085\/jgp.83.2.193","volume":"83","author":"ER Griff","year":"1984","unstructured":"Griff ER, Steinberg RH (1984) Changes in apical [K+] produce delayed basal membrane responses of the retinal pigment epithelium in the gecko. J Gen Physiol 83:193\u2013211. https:\/\/doi.org\/10.1085\/jgp.83.2.193","journal-title":"J Gen Physiol"},{"key":"10093_CR151","doi-asserted-by":"publisher","first-page":"1656","DOI":"10.1152\/jn.1993.70.4.1656","volume":"70","author":"RP Gallemore","year":"1993","unstructured":"Gallemore RP, Hernandez E, Tayyanipour R, Fujii S, Steinberg RH (1993) Basolateral membrane Cl- and K+ conductances of the dark-adapted chick retinal pigment epithelium. J Neurophysiol 70:1656\u20131668. https:\/\/doi.org\/10.1152\/jn.1993.70.4.1656","journal-title":"J Neurophysiol"},{"key":"10093_CR152","doi-asserted-by":"publisher","DOI":"10.1085\/jgp.202012687","volume":"153","author":"C Fortenbach","year":"2021","unstructured":"Fortenbach C, Peinado Allina G, Shores CM et al (2021) Loss of the K+ channel Kv2.1 greatly reduces outward dark current and causes ionic dysregulation and degeneration in rod photoreceptors. J Gen Physiol 153:e202012687. https:\/\/doi.org\/10.1085\/jgp.202012687","journal-title":"J Gen Physiol"},{"issue":"5","key":"10093_CR153","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1016\/S0006-3495(70)86308-1","volume":"10","author":"WA Hagins","year":"1970","unstructured":"Hagins WA, Penn RD, Yoshikami S (1970) Dark current and photocurrent in retinal rods. Biophys J 10(5):380\u2013412. https:\/\/doi.org\/10.1016\/S0006-3495(70)86308-1","journal-title":"Biophys J"},{"issue":"Pt 1","key":"10093_CR154","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1113\/jphysiol.1995.sp020647","volume":"484","author":"S Bialek","year":"1995","unstructured":"Bialek S, Joseph DP, Miller SS (1995) The delayed basolateral membrane hyperpolarization of the bovine retinal pigment epithelium: mechanism of generation. J Physiol 484(Pt 1):53\u201367. https:\/\/doi.org\/10.1113\/jphysiol.1995.sp020647","journal-title":"J Physiol"},{"key":"10093_CR155","doi-asserted-by":"publisher","first-page":"3447","DOI":"10.1016\/s0042-6989(00)00173-5","volume":"40","author":"ME Schneck","year":"2000","unstructured":"Schneck ME, Fortune B, Adams AJ (2000) The fast oscillation of the electrooculogram reveals sensitivity of the human outer retina\/retinal pigment epithelium to glucose level. Vision Res 40:3447\u20133453. https:\/\/doi.org\/10.1016\/s0042-6989(00)00173-5","journal-title":"Vision Res"},{"key":"10093_CR156","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/s10633-007-9088-3","volume":"116","author":"ME Schneck","year":"2008","unstructured":"Schneck ME, Shupenko L, Adams AJ (2008) The fast oscillation of the EOG in diabetes with and without mild retinopathy. Doc Ophthalmol 116:231\u2013236. https:\/\/doi.org\/10.1007\/s10633-007-9088-3","journal-title":"Doc Ophthalmol"},{"key":"10093_CR157","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1001\/archopht.1989.01070010544028","volume":"107","author":"RG Weleber","year":"1989","unstructured":"Weleber RG (1989) Fast and slow oscillations of the electro-oculogram in best\u2019s macular dystrophy and retinitis pigmentosa. Arch Ophthalmol 107:530\u2013537. https:\/\/doi.org\/10.1001\/archopht.1989.01070010544028","journal-title":"Arch Ophthalmol"},{"key":"10093_CR158","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1023\/a:1017915132721","volume":"103","author":"F Mergaerts","year":"2001","unstructured":"Mergaerts F, Daems E, Van Malderen L, Spileers W (2001) Recording of the fast oscillations in the human electro-oculogram. Doc Ophthalmol 103:63\u201372. https:\/\/doi.org\/10.1023\/a:1017915132721","journal-title":"Doc Ophthalmol"},{"key":"10093_CR159","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-026-10081-2","author":"SK Padhy","year":"2026","unstructured":"Padhy SK, Constable PA (2026) The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results. Doc Ophthalmol. https:\/\/doi.org\/10.1007\/s10633-026-10081-2","journal-title":"Doc Ophthalmol"},{"key":"10093_CR160","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1007\/s10633-021-09845-9","volume":"143","author":"PA Constable","year":"2021","unstructured":"Constable PA, Kapoor G (2021) Is white the right light for the clinical electrooculogram? Doc Ophthalmol 143:297\u2013304. https:\/\/doi.org\/10.1007\/s10633-021-09845-9","journal-title":"Doc Ophthalmol"},{"key":"10093_CR161","doi-asserted-by":"publisher","first-page":"2341","DOI":"10.1038\/s41433-021-01592-0","volume":"35","author":"R Hamilton","year":"2021","unstructured":"Hamilton R (2021) Clinical electrophysiology of vision-commentary on current status and future prospects. Eye 35:2341\u20132343. https:\/\/doi.org\/10.1038\/s41433-021-01592-0","journal-title":"Eye"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-026-10093-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10633-026-10093-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-026-10093-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T10:39:02Z","timestamp":1779359942000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10633-026-10093-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,8]]},"references-count":161,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10093"],"URL":"https:\/\/doi.org\/10.1007\/s10633-026-10093-y","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"value":"0012-4486","type":"print"},{"value":"1573-2622","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,8]]},"assertion":[{"value":"21 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 March 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"All participants gave consent to publish anonymised data obtained from their clinical records.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"All procedures performed in study involving human participants were in accordance with the ethical standards of institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement of human rights"}},{"value":"Not applicable.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement on the welfare of animals"}},{"value":"Not applicable.","order":8,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}