[1] [1] RESNIKOFF S, PASCOLINI D, MARIOTTI S P, et al. Global magnitude of visual impairment caused by uncorrected refractive errors in 2004［J］. Bulletin of the World Health Organization, 2008, 86(1): 63-70.

[2] [2] HYMAN L. Myopic and hyperopic refractive error in adults: an overview［J］. Ophthalmic Epidemiology, 2007, 14(4): 192-197.

[3] [3] SPERDUTO R D, SEIGEL D, ROBERTS J, et al. Prevalence of myopia in the United States［J］. Archives of Ophthalmology, 1983, 101(3): 405-407.

[4] [4] KEMPEN J H, MITCHELL P, LEE K E, et al. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia［J］. Archives of Ophthalmology, 2004, 122(4): 495-505.

[5] [5] SAWADA A, TOMIDOKORO A, ARAIE M, et al. Refractive errors in an elderly Japanese population: the Tajimi study［J］. Ophthalmology, 2008, 115(2): 363-370.e3.

[6] [6] HE M, ZHENG Y, XIANG F. Prevalence of myopia in urban and rural children in mainland China［J］. Optometry and Vision Science, 2009, 86(1): 40-44.

[7] [7] WONG T Y, FOSTER P J, HEE J, et al. Prevalence and risk factors for refractive errors in adult Chinese in Singapore［J］. Investigative Ophthalmology & Visual Science, 2000, 41(9): 2486-2494.

[8] [8] YOUNG T L, METLAPALLY R, SHAY A E. Complex trait genetics of refractive error［J］. Archives of Ophthalmology, 2007, 125(1): 38-48.

[9] [9] PERCIVAL S P. Redefinition of high myopia: the relationship of axial length measurement to myopic pathology and its relevance to cataract surgery［J］. Developments in Ophthalmology, 1987, 14: 42-46.

[10] [10] Flitcroft D I, He M G, Jonas J B, et al. IMI-defining and classifying myopia: a proposed set of standards for clinical and epidemiologic studies［J］. Investigative Ophthalmology & Visual Science, 2019, 60(3): M20-M30.

[11] [11] MORGAN I, ROSE K. How genetic is school myopia?［J］. Progress in Retinal and Eye Research, 2005, 24(1): 1-38.

[13] [13] ENTHOVEN C A, TIDEMAN J, POLLING J R, et al. Interaction between lifestyle and genetic susceptibility in myopia: the Generation R study［J］. European Journal of Epidemiology, 2019, 34(8): 777-784.

[14] [14] LIN H J, WAN L, TSAI Y, et al. Muscarinic acetylcholine receptor 1 gene polymorphisms associated with high myopia［J］. Molecular Vision, 2009, 15: 1774-1780.

[15] [15] KLEIN A P, SUKTITIPAT B, DUGGAL P, et al. Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study［J］. Archives of Ophthalmology, 2009, 127(5): 649-655.

[16] [16] HAMMOND C J, SNIEDER H, GILBERT C E, et al. Genes and environment in refractive error: the twin eye study［J］. Investigative Ophthalmology & Visual Science, 2001, 42(6): 1232-1236.

[17] [17] PALURU P C, NALLASAMY S, DEVOTO M, et al. Identification of a novel locus on 2q for autosomal dominant high-grade myopia［J］. Investigative Ophthalmology & Visual Science, 2005, 46(7): 2300-2307.

[18] [18] ZHANG Q, GUO X, XIAO X, et al. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612［J］. Molecular Vision, 2005, 11: 554-560.

[19] [19] TRAN-VIET K N, POWELL C, BARATHI V A, et al. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia［J］. American Journal of Human Genetics, 2013, 92(5): 820-826.

[20] [20] ALDAHMESH M A, KHAN A O, ALKURAYA H, et al. Mutations in LRPAP1 are associated with severe myopia in humans［J］. American Journal of Human Genetics, 2013, 93(2): 313-320.

[21] [21] MORDECHAI S, GRADSTEIN L, PASANEN A, et al. High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2［J］. American Journal of Human Genetics, 2011, 89(3): 438-445.

[22] [22] ZHANG Q, XIAO X, LI S, et al. Mutations in NYX of individuals with high myopia, but without night blindness［J］. Molecular Vision, 2007, 13: 330-336.

[23] [23] RATNAMALA U, LYLE R, RAWAL R, et al. Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing［J］. Investigative Ophthalmology & Visual Science, 2011, 52(9): 6814-6819.

[24] [24] SHI Y, LI Y, ZHANG D, et al. Exome sequencing identifies ZNF644 mutations in high myopia［J］. PLoS Genetics, 2011, 7(6): e1002084.

[25] [25] GUO H, JIN X, ZHU T, et al. SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia［J］. Journal of Medical Genetics, 2014, 51(8): 518-525.

[26] [26] GUO H, TONG P, LIU Y, et al. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia［J］. Genetics in Medicine, 2015, 17(4): 300-306.

[27] [27] TIAN Q, TONG P, CHEN G, et al. GLRA2 gene mutations cause high myopia in humans and mice［J］. Journal of Medical Genetics, 2022. DOI:?10.1136/jmedgenet-2022-108425.

[28] [28] YIP S P, LI C C, YIU W C, et al. A novel missense mutation in the NYX gene associated with high myopia［J］. Ophthalmic And Physiological Optics, 2013, 33(3): 346-353.

[29] [29] PUSCH C M, ZEITZ C, BRANDAU O, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein［J］. Nature Genetics, 2000, 26(3): 324-327.

[30] [30] BECH-HANSEN N T, NAYLOR M J, MAYBAUM T A, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness［J］. Nature Genetics, 2000, 26(3): 319-323.

[31] [31] CAO Y, POSOKHOVA E, MARTEMYANOV K A. TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner［J］. Journal of Neuroscience, 2011, 31(32): 11521-11526.

[32] [32] Scanga H L, Liasis A, Pihlblad M S, et al. NYX-related congenital stationary night blindness in two siblings due to probable maternal germline mosaicism［J］. Ophthalmic Genetics, 2021, 42(5): 588-592.

[33] [33] De Silva S R, Arno G, Robson A G,?et al. The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies［J］. Progress in Retinal and Eye Resesrch, 2021, 82: 100898.

[34] [34] Hayashi T, Murakami Y, Mizobuchi K,??et al. Complete congenital stationary night blindness associated with a novel?NYX?variant (p.Asn216Lys) in middle-aged and older adult patients［J］. Ophthalmic Genetics, 2021, 42(4): 412-419.

[35] [35] Kim H M, Joo K, Han J,?et al. Clinical and genetic characteristics of Korean congenital stationary night blindness patients［J］. Genes-basel,?2021, 12(6): 789.?

[36] [36] ZHOU L, LI T, SONG X, et al. NYX mutations in four families with high myopia with or without CSNB1［J］. Molecular Vision, 2015, 21: 213-223.

[37] [37] LI H, DURBIN R. Fast and accurate short read alignment with Burrows-Wheeler transform［J］. Bioinformatics, 2009, 25(14): 1754-1760.

[38] [38] LI H, HANDSAKER B, WYSOKER A, et al. The sequence alignment/map format and SAMtools［J］. Bioinformatics, 2009, 25(16): 2078-2079.

[39] [39] KORESSAAR T, REMM M. Enhancements and modifications of primer design program Primer3［J］. Bioinformatics, 2007, 23(10): 1289-1291.

[40] [40] Navarro Gonzalez J, Zweig A S, Speir M L, et al. The?UCSC?genome?browser?database: 2021 update［J］. Nucleic Acids Research, 2021, 49(D1): D1046-D1057.

[41] [41] SPEIR M L, ZWEIG A S, ROSENBLOOM K R, et al. The UCSC genome browser database: 2016 update［J］. Nucleic Acids Research, 2016, 44(D1): D717-D725.

[42] [42] ADZHUBEI I, JORDAN D M, SUNYAEV S R. Predicting functional effect of human missense mutations using PolyPhen-2［J］. Current Protocols in Human Genetics, 2013, Chapter 7: Unit 7.20.

[43] [43] KUMAR P, HENIKOFF S, NG P C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm［J］. Nature Protocols, 2009, 4(7): 1073-1081.

[44] [44] SCHWARZ J M, R?DELSPERGER C, SCHUELKE M, et al. Mutation taster evaluates disease-causing potential of sequence alterations［J］. Nature Methods, 2010, 7(8): 575-576.

[45] [45] HOCKING A M, SHINOMURA T, MCQUILLAN D J. Leucine-rich repeat glycoproteins of the extracellular matrix［J］. Matrix Biology, 1998, 17(1): 1-19.

[46] [46] KOBE B, DEISENHOFER J. The leucine-rich repeat: a versatile binding motif［J］. Trends in Biochemical Sciences, 1994, 19(10): 415-421.

[47] [47] SIEVING P A, RICHARDS J E, NAARENDORP F, et al. Dark-light: model for nightblindness from the human rhodopsin Gly-90→Asp mutation［J］. Proceedings of the National Academy of Sciences of the United States of America, 1995, 92(3): 880-884.

[48] [48] NEIDHARDT J, BARTHELMES D, FARAHMAND F, et al. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes［J］. Investigative Ophthalmology & Visual Science, 2006, 47(4): 1630-1635.

[49] [49] BELLUS G A, SPECTOR E B, SPEISER P W, et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype［J］. American Journal of Human Genetics, 2000, 67(6): 1411-1421.

[50] [50] KITOH H, BRODIE S G, KUPKE K G, et al. Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online［J］. Human Mutation, 1998, 12(5): 362-363.

[51] [51] TAVORMINA P L, SHIANG R, THOMPSON L M, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3［J］. Nature Genetics, 1995, 9(3): 321-328.

[52] [52] SPIELMAN R S, BASTONE L A, BURDICK J T, et al. Common genetic variants account for differences in gene expression among ethnic groups［J］. Nature Genetics, 2007, 39(2): 226-231.