{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:26:11Z","timestamp":1759332371851,"version":"3.37.3"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81870694","61671242"],"award-info":[{"award-number":["81870694","61671242"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Ophthalmol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We reported a large Chinese family in which all affected individuals are afflicted with poor visual acuity and foveal hypoplasia without signs of nystagmus. Fundus examination of patients showed an absent foveal reflex and mild hypopigmentation. The fourth grade of foveal hypoplasia and the reduced area of blocked fluorescence at foveal region was detected in OCT. OCTA imaging showed the absence of foveal avascular zone. In addition, the amplitude of multifocal ERG was reduced in the central ring. Gene sequencing results revealed a novel hemizygous mutation (c.939G\u2009&gt;\u2009A) in GPR143 gene, which triggered p.W313X. However, no iris depigmentation and nystagmus were observed among both patients and carriers.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In this study, we reported a novel nonsense mutation of GPR143 in a large family with poor visual acuity and isolated foveal hypoplasia without nystagmus, which further expanded the genetic mutation spectrum of GPR143.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12886-021-01905-7","type":"journal-article","created":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T16:03:29Z","timestamp":1617120209000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia"],"prefix":"10.1186","volume":"21","author":[{"given":"Xiying","family":"Mao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingkang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinghuai","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songtao","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,30]]},"reference":[{"issue":"1","key":"1905_CR1","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/ng0595-13","volume":"10","author":"MT Bassi","year":"1995","unstructured":"Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995;10(1):13\u20139. https:\/\/doi.org\/10.1038\/ng0595-13.","journal-title":"Nat Genet"},{"issue":"6","key":"1905_CR2","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1007\/s10038-007-0152-3","volume":"52","author":"JY Liu","year":"2007","unstructured":"Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, et al. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet. 2007;52(6):565\u201370. https:\/\/doi.org\/10.1007\/s10038-007-0152-3.","journal-title":"J Hum Genet"},{"key":"1905_CR3","first-page":"1015","volume":"14","author":"P Zhou","year":"2008","unstructured":"Zhou P, Wang Z, Zhang J, Hu L, Kong X. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2008;14:1015\u20139.","journal-title":"Mol Vis"},{"issue":"1","key":"1905_CR4","doi-asserted-by":"publisher","first-page":"12031","DOI":"10.1038\/srep12031","volume":"5","author":"R Han","year":"2015","unstructured":"Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, et al. GPR143 gene mutations in five Chinese families with X-linked congenital Nystagmus. Sci Rep. 2015;5(1):12031. https:\/\/doi.org\/10.1038\/srep12031.","journal-title":"Sci Rep"},{"issue":"5","key":"1905_CR5","doi-asserted-by":"publisher","first-page":"3069","DOI":"10.3892\/mmr.2017.6366","volume":"15","author":"X Jia","year":"2017","unstructured":"Jia X, Yuan J, Jia X, Ling S, Li S, Guo X. GPR143 mutations in Chinese patients with ocular albinism type 1. Mol Med Rep. 2017;15(5):3069\u201375. https:\/\/doi.org\/10.3892\/mmr.2017.6366.","journal-title":"Mol Med Rep"},{"issue":"4","key":"1905_CR6","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1007\/s10792-014-9900-5","volume":"34","author":"A Giocanti-Auregan","year":"2014","unstructured":"Giocanti-Auregan A, Witmer MT, Radcliffe NM, D'Amico DJ. Isolated foveal hypoplasia without nystagmus. Int Ophthalmol. 2014;34(4):877\u201380. https:\/\/doi.org\/10.1007\/s10792-014-9900-5.","journal-title":"Int Ophthalmol"},{"issue":"8","key":"1905_CR7","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","volume":"118","author":"MG Thomas","year":"2011","unstructured":"Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011;118(8):1653\u201360. https:\/\/doi.org\/10.1016\/j.ophtha.2011.01.028.","journal-title":"Ophthalmology"},{"issue":"6","key":"1905_CR8","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1136\/bjo.87.6.767","volume":"87","author":"SE Dorey","year":"2003","unstructured":"Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol. 2003;87(6):767\u201372. https:\/\/doi.org\/10.1136\/bjo.87.6.767.","journal-title":"Br J Ophthalmol"},{"issue":"22","key":"1905_CR9","doi-asserted-by":"publisher","first-page":"3487","DOI":"10.1093\/hmg\/ddn241","volume":"17","author":"I Palmisano","year":"2008","unstructured":"Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2008;17(22):3487\u2013501. https:\/\/doi.org\/10.1093\/hmg\/ddn241.","journal-title":"Hum Mol Genet"},{"key":"1905_CR10","doi-asserted-by":"publisher","unstructured":"Figueroa AG, McKay BS. A G-protein coupled receptor and macular degeneration. Cells. 2020;9(4):910. https:\/\/doi.org\/10.3390\/cells9040910.","DOI":"10.3390\/cells9040910"},{"issue":"1","key":"1905_CR11","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/jnr.24246","volume":"97","author":"BS McKay","year":"2019","unstructured":"McKay BS. Pigmentation and vision: is GPR143 in control? J Neurosci Res. 2019;97(1):77\u201387. https:\/\/doi.org\/10.1002\/jnr.24246.","journal-title":"J Neurosci Res"},{"issue":"7","key":"1905_CR12","doi-asserted-by":"publisher","first-page":"3409","DOI":"10.1167\/iovs.16-19621","volume":"57","author":"W Lee","year":"2016","unstructured":"Lee W, Schuerch K, Xie Y, Zernant J, Tsang SH, Sparrow JR, et al. Simultaneous expression of ABCA4 and GPR143 mutations: a complex phenotypic manifestation. Invest Ophthalmol Vis Sci. 2016;57(7):3409\u201315. https:\/\/doi.org\/10.1167\/iovs.16-19621.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"1905_CR13","doi-asserted-by":"publisher","first-page":"1400","DOI":"10.1242\/jcs.164400","volume":"128","author":"T Burgoyne","year":"2015","unstructured":"Burgoyne T, O'Connor MN, Seabra MC, Cutler DF, Futter CE. Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL. J Cell Sci. 2015;128(7):1400\u20137. https:\/\/doi.org\/10.1242\/jcs.164400.","journal-title":"J Cell Sci"},{"key":"1905_CR14","doi-asserted-by":"publisher","unstructured":"Chen T, Wang H, Liu Y, Zhao B, Zhao Y, Fan R, et al. Ocular albinism type 1 regulates Melanogenesis in mouse melanocytes. Int J Mol Sci. 2016;17(10):1596. https:\/\/doi.org\/10.3390\/ijms17101596.","DOI":"10.3390\/ijms17101596"},{"issue":"6","key":"1905_CR15","doi-asserted-by":"publisher","first-page":"2459","DOI":"10.1167\/iovs.18-24213","volume":"59","author":"M Paavo","year":"2018","unstructured":"Paavo M, Zhao J, Kim HJ, Lee W, Zernant J, Cai C, et al. Mutations in GPR143\/OA1 and ABCA4 inform interpretations of short-wavelength and near-infrared fundus autofluorescence. Invest Ophthalmol Vis Sci. 2018;59(6):2459\u201369. https:\/\/doi.org\/10.1167\/iovs.18-24213.","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"1905_CR16","doi-asserted-by":"publisher","first-page":"1075","DOI":"10.1007\/s10792-014-9912-1","volume":"34","author":"HE Sepulveda-Vazquez","year":"2014","unstructured":"Sepulveda-Vazquez HE, Villanueva-Mendoza C, Zenteno JC, Villegas-Ruiz V, Pelcastre-Luna E, Garcia-Aguirre G. Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism. Int Ophthalmol. 2014;34(5):1075\u201381. https:\/\/doi.org\/10.1007\/s10792-014-9912-1.","journal-title":"Int Ophthalmol"},{"issue":"3","key":"1905_CR17","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1097\/IAE.0000000000001570","volume":"38","author":"KN Khan","year":"2018","unstructured":"Khan KN, Lord EC, Arno G, Islam F, Carss KJ, Raymond F, et al. Detailed retinal imaging in carriers of ocular albinism. Retina. 2018;38(3):620\u20138. https:\/\/doi.org\/10.1097\/IAE.0000000000001570.","journal-title":"Retina"},{"key":"1905_CR18","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.preteyeres.2018.03.006","volume":"66","author":"A Bringmann","year":"2018","unstructured":"Bringmann A, Syrbe S, Gorner K, Kacza J, Francke M, Wiedemann P, et al. The primate fovea: structure, function and development. Prog Retin Eye Res. 2018;66:49\u201384. https:\/\/doi.org\/10.1016\/j.preteyeres.2018.03.006.","journal-title":"Prog Retin Eye Res"},{"issue":"4","key":"1905_CR19","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/j.devcel.2020.04.009","volume":"53","author":"Y Lu","year":"2020","unstructured":"Lu Y, Shiau F, Yi W, Lu S, Wu Q, Pearson JD, et al. Single-cell analysis of human retina identifies evolutionarily conserved and species-specific mechanisms controlling development. Dev Cell. 2020;53(4):473\u201391e479. https:\/\/doi.org\/10.1016\/j.devcel.2020.04.009.","journal-title":"Dev Cell"},{"issue":"9","key":"1905_CR20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0060236","volume":"6","author":"VM Lopez","year":"2008","unstructured":"Lopez VM, Decatur CL, Stamer WD, Lynch RM, McKay BS. L-DOPA is an endogenous ligand for OA1. PLoS Biol. 2008;6(9):e236. https:\/\/doi.org\/10.1371\/journal.pbio.0060236.","journal-title":"PLoS Biol"},{"key":"1905_CR21","doi-asserted-by":"publisher","first-page":"278932","DOI":"10.1155\/2012\/278932","volume":"2012","author":"T Falk","year":"2012","unstructured":"Falk T, Congrove NR, Zhang S, McCourt AD, Sherman SJ, McKay BS. PEDF and VEGF-A output from human retinal pigment epithelial cells grown on novel microcarriers. J Biomed Biotechnol. 2012;2012:278932.","journal-title":"J Biomed Biotechnol"},{"issue":"3","key":"1905_CR22","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1016\/j.amjmed.2015.10.015","volume":"129","author":"MH Brilliant","year":"2016","unstructured":"Brilliant MH, Vaziri K, Connor TB Jr, Schwartz SG, Carroll JJ, McCarty CA, et al. Mining retrospective data for virtual prospective drug repurposing: L-DOPA and age-related macular degeneration. Am J Med. 2016;129(3):292\u20138. https:\/\/doi.org\/10.1016\/j.amjmed.2015.10.015.","journal-title":"Am J Med"},{"issue":"1","key":"1905_CR23","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.amjmed.2020.05.038","volume":"134","author":"AG Figueroa","year":"2021","unstructured":"Figueroa AG, Boyd BM, Christensen CA, Javid CG, McKay BS, Fagan TC, et al. Levodopa positively affects Neovascular age-related macular degeneration. Am J Med. 2021;134(1):122\u20138e123. https:\/\/doi.org\/10.1016\/j.amjmed.2020.05.038.","journal-title":"Am J Med"},{"issue":"2","key":"1905_CR24","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1111\/aos.13565","volume":"96","author":"M Ashraf","year":"2018","unstructured":"Ashraf M, Souka A, Adelman RA. Age-related macular degeneration: using morphological predictors to modify current treatment protocols. Acta Ophthalmol. 2018;96(2):120\u201333. https:\/\/doi.org\/10.1111\/aos.13565.","journal-title":"Acta Ophthalmol"}],"container-title":["BMC Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-021-01905-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12886-021-01905-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12886-021-01905-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T16:03:54Z","timestamp":1617120234000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcophthalmol.biomedcentral.com\/articles\/10.1186\/s12886-021-01905-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,30]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1905"],"URL":"https:\/\/doi.org\/10.1186\/s12886-021-01905-7","relation":{},"ISSN":["1471-2415"],"issn-type":[{"type":"electronic","value":"1471-2415"}],"subject":[],"published":{"date-parts":[[2021,3,30]]},"assertion":[{"value":"3 November 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 March 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of the First Affiliated Hospital of Nanjing Medical University and strictly followed the Helsinki declaration. All participants provided written informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from all participants (or the parents of their children under 16\u2009years old). Written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"156"}}