Details of Disease

General Information of Disease (ID: DISK5S60)

• Disease Name: Myopia
• Synonyms: short-sightedness; near-sightedness; near vision; myopia (disease); myopia
• Disease Class: 9D00: Refraction disorder
• Definition: The condition in which the individual does not see far distances clearly.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISWNEQ1: Refractive error
  DISK5S60: Myopia
• ICD Code:
  ICD-11: ICD-11: 9D00.0
  ICD-10: ICD-10: H52.1
  Expand ICD-11: '9D00.0
  Expand ICD-10: 'H52.1
• Disease Identifiers:
  MONDO ID: MONDO_0001384
  MESH ID: D009216
  UMLS CUI: C0027092
  MedGen ID: 44558
  HPO ID: HP:0000545
  SNOMED CT ID: 57190000

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
7-methylxanthine	DMOITCW	Phase 2	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 33 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	Limited	Biomarker	[2]
CACNA1F	TTJ0SO4	Limited	Biomarker	[3]
KCNMA1	TTE87WJ	Limited	Genetic Variation	[4]
PDE11A	TTTWC79	Limited	Genetic Variation	[4]
TCF7L2	TT80QAL	Limited	Genetic Variation	[4]
THRB	TTGER3L	Limited	Genetic Variation	[4]
BMP4	TTD3BSX	moderate	Biomarker	[5]
CRYAA	TT8CWJG	moderate	Genetic Variation	[6]
GJD2	TTOZAFI	moderate	Biomarker	[7]
ADORA2A	TTM2AOE	Strong	Biomarker	[8]
ADRA1D	TT34BHT	Strong	Genetic Variation	[9]
ALOX5AP	TTDMBF5	Strong	Biomarker	[10]
AMD1	TTBFROQ	Strong	Biomarker	[11]
BMP2K	TT32VXH	Strong	Genetic Variation	[12]
CDKL2	TTMO45N	Strong	Biomarker	[8]
CFI	TT6ATLX	Strong	Genetic Variation	[13]
CHRM2	TTYEG6Q	Strong	Biomarker	[14]
CTSH	TT3G406	Strong	Genetic Variation	[15]
FGF10	TTNPEFX	Strong	Genetic Variation	[16]
GRIA4	TTPJR0G	Strong	Genetic Variation	[4]
HS6ST2	TTS6LBM	Strong	Genetic Variation	[17]
KCNQ5	TTWVL5Q	Strong	Genetic Variation	[4]
OTC	TT5KIO9	Strong	Genetic Variation	[18]
PRKAR2B	TTW4Y2M	Strong	Genetic Variation	[19]
PTGFR	TTT2ZAR	Strong	Altered Expression	[20]
RPGR	TTHBDA9	Strong	Genetic Variation	[21]
SERPINI2	TTFS1T2	Strong	Biomarker	[22]
SIRPA	TTBRJS9	Strong	Genetic Variation	[23]
SLITRK6	TTTVEKI	Strong	Genetic Variation	[24]
VIPR2	TT4O5P0	Strong	Genetic Variation	[25]
COL18A1	TT63DI9	Definitive	Biomarker	[26]
GRM6	TTWRP2F	Definitive	Genetic Variation	[27]
TYR	TTULVH8	Definitive	Altered Expression	[28]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A12	DT85HYR	Limited	Genetic Variation	[4]
SLC30A10	DTYBI73	Strong	Altered Expression	[29]

This Disease Is Related to 4 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXYD2	DEULQ45	Limited	Genetic Variation	[4]
P3H2	DELB5PA	Limited	Biomarker	[30]
PXYLP1	DEGSUI0	Limited	Genetic Variation	[4]
P4HA2	DE5EGK0	Strong	Genetic Variation	[31]

This Disease Is Related to 86 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTSL1	OTBNYF3F	Limited	Genetic Variation	[4]
APH1B	OTQHPTGC	Limited	Genetic Variation	[4]
BICC1	OTYRKIJ1	Limited	Genetic Variation	[4]
CDCA3	OTUI8QK3	Limited	Genetic Variation	[4]
COL10A1	OTC4G2YC	Limited	Genetic Variation	[4]
COL1A1	OTI31178	Limited	Genetic Variation	[32]
CPSF2	OTU6QXZE	Limited	Genetic Variation	[4]
DLG2	OTQ3BD8U	Limited	Genetic Variation	[4]
DSCAML1	OT7QURQT	Limited	Genetic Variation	[4]
FRMPD2	OT8OM5MA	Limited	Genetic Variation	[4]
GNB3	OTA6HYBA	Limited	Genetic Variation	[4]
GPD2	OTV232Y7	Limited	Genetic Variation	[4]
LRFN5	OTK7QZ3B	Limited	Genetic Variation	[4]
LRRC4C	OT5QI5EP	Limited	Genetic Variation	[4]
LUM	OTSRC874	Limited	Biomarker	[33]
MYO5B	OTCKL3W3	Limited	Genetic Variation	[4]
NFIA	OTDHQ9CG	Limited	Genetic Variation	[4]
NPLOC4	OTC1WUVF	Limited	Genetic Variation	[4]
NT5DC1	OTNI9MFH	Limited	Genetic Variation	[4]
NTM	OTHF0UQU	Limited	Genetic Variation	[4]
PRSS56	OTPPXTBB	Limited	Posttranslational Modification	[34]
PTPN5	OT2H1KDK	Limited	Genetic Variation	[4]
RASGRF1	OTNWJ7EN	Limited	Biomarker	[35]
RGR	OTKCF5AZ	Limited	Genetic Variation	[4]
TFAP2B	OTR1T8E9	Limited	Genetic Variation	[4]
TJP2	OTQUY6BV	Limited	Genetic Variation	[4]
TSPAN10	OTL4LIHB	Limited	Genetic Variation	[4]
COL2A1	OT5E59C8	moderate	Genetic Variation	[36]
SCO2	OTJQQDRS	moderate	Biomarker	[37]
SIX6	OTD1RD9D	moderate	Biomarker	[2]
ADAMTS18	OTRMFI04	Strong	Genetic Variation	[38]
ADAMTS2	OTTK22NO	Strong	Biomarker	[33]
ARL6	OTLV3SBS	Strong	Biomarker	[39]
BBS4	OT0D3JC0	Strong	Biomarker	[39]
BCAP31	OTKSACR4	Strong	Biomarker	[8]
BMP3	OTCTI0UW	Strong	Genetic Variation	[4]
BPTF	OTD1RZAD	Strong	CausalMutation	[40]
CABP4	OTL0TRR5	Strong	Biomarker	[3]
CCDC102B	OTVDZVD0	Strong	Biomarker	[41]
CCDC91	OTLZNXDL	Strong	Biomarker	[8]
CHMP4A	OTBCSG50	Strong	Biomarker	[42]
COL8A1	OTWBTED2	Strong	Genetic Variation	[43]
COL9A1	OTWBR27Y	Strong	Biomarker	[44]
CREBZF	OTO3TOEU	Strong	Biomarker	[45]
CTNND2	OTYKE30Y	Strong	Genetic Variation	[46]
DNALI1	OTTB3L8N	Strong	Biomarker	[8]
DYNLT3	OT26QKCI	Strong	Genetic Variation	[18]
EXOC6B	OTFI1IPG	Strong	Genetic Variation	[47]
FZD5	OTXFFY56	Strong	Altered Expression	[48]
GCA	OTAJ7ZHG	Strong	Genetic Variation	[49]
GMCL1	OTRZHUFV	Strong	Genetic Variation	[49]
GOSR1	OTX8TMVU	Strong	Biomarker	[8]
HERC2	OTNQYKOB	Strong	Biomarker	[50]
IFIT1	OTXOQDSG	Strong	Biomarker	[8]
IRX5	OT05J514	Strong	Biomarker	[51]
KERA	OTAP9L2A	Strong	Biomarker	[33]
LAMA1	OTQZMP86	Strong	Genetic Variation	[52]
LAMA2	OTFROQWE	Strong	Genetic Variation	[53]
LAMA5	OTIIXE4M	Strong	Genetic Variation	[54]
LPIN2	OTRRTMXX	Strong	Genetic Variation	[55]
LRPAP1	OT6DVD2Q	Strong	GermlineCausalMutation	[15]
LYPLAL1	OT8F2DCV	Strong	Altered Expression	[29]
MAPRE3	OTSCLETV	Strong	Genetic Variation	[18]
NYX	OTAGXLYP	Strong	Genetic Variation	[56]
PADI1	OT13WAQX	Strong	Biomarker	[57]
PDIA2	OTC2WMXS	Strong	Biomarker	[57]
PHLDA2	OTMV9DPP	Strong	Biomarker	[58]
PLK3	OT19CT2Z	Strong	Biomarker	[59]
PPP1R12C	OT9Q86JO	Strong	Genetic Variation	[23]
PSMC1	OTLHD56E	Strong	Biomarker	[8]
PTPN23	OT5WDPXB	Strong	Altered Expression	[42]
RAD1	OT886MA8	Strong	Biomarker	[60]
RBFOX1	OTFPKEL7	Strong	Genetic Variation	[4]
RDH8	OTSFFV9B	Strong	Genetic Variation	[61]
RP2	OTK050I3	Strong	Genetic Variation	[18]
RPE	OT0XT3JU	Strong	Biomarker	[58]
SENP6	OT05LLF4	Strong	Genetic Variation	[62]
SHISA6	OTWBCJ8O	Strong	Genetic Variation	[4]
SNTB1	OTSRBECI	Strong	Altered Expression	[63]
THOC1	OTVABJ4Z	Strong	Genetic Variation	[23]
TMED5	OT70W1J8	Strong	Biomarker	[8]
TMTC3	OTMTTDYG	Strong	Biomarker	[45]
TTC21B	OTXXA87U	Strong	Genetic Variation	[64]
BFSP2	OT3QREFR	Definitive	Genetic Variation	[65]
COL11A1	OTB0DRMS	Definitive	Biomarker	[26]
IFT43	OTKWYQ5C	Definitive	Biomarker	[66]

References

• [1] ClinicalTrials.gov (NCT00263471) Myopia Progression and the Effect of 7-Methylxanthine. U.S. National Institutes of Health.
• [2] Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10.
• [3] Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?.Am J Ophthalmol. 2017 Oct;182:81-89. doi: 10.1016/j.ajo.2017.07.008. Epub 2017 Jul 25.
• [4] Detection and interpretation of shared genetic influences on 42 human traits.Nat Genet. 2016 Jul;48(7):709-17. doi: 10.1038/ng.3570. Epub 2016 May 16.
• [5] Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31.
• [6] Mutational screening of six genes in Chinese patients with congenital cataract and microcornea. Mol Vis. 2011;17:1508-13. Epub 2011 Jun 7.
• [7] Decreased expression of gap junction delta-2 (GJD2) messenger RNA and connexin 36 protein in form-deprivation myopia of guinea pigs.Chin Med J (Engl). 2019 Jul 20;132(14):1700-1705. doi: 10.1097/CM9.0000000000000319.
• [8] Genetic deletion of the adenosine A2A receptor confers postnatal development of relative myopia in mice.Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4362-70. doi: 10.1167/iovs.09-3998. Epub 2010 May 19.
• [9] Systematic assessment of the tagging polymorphisms of the COL1A1 gene for high myopia.J Hum Genet. 2007;52(4):374-377. doi: 10.1007/s10038-007-0117-6. Epub 2007 Feb 2.
• [10] INVERTED INTERNAL LIMITING MEMBRANE FLAP TECHNIQUE FOR TREATMENT OF MACULAR HOLE RETINAL DETACHMENT IN HIGHLY MYOPIC EYES.Retina. 2018 Dec;38(12):2317-2326. doi: 10.1097/IAE.0000000000001898.
• [11] Increased Axial Length Corresponds to Decreased Retinal Light Dose: A Parsimonious Explanation for Decreasing AMD Risk in Myopia.Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):3852-3857. doi: 10.1167/iovs.17-23696.
• [12] A novel genetic variant of BMP2K contributes to high myopia.J Clin Lab Anal. 2009;23(6):362-7. doi: 10.1002/jcla.20344.
• [13] Genetic factors for choroidal neovascularization associated with high myopia.Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):5004-9. doi: 10.1167/iovs.12-9538.
• [14] Muscarinic cholinergic receptor (M2) plays a crucial role in the development of myopia in mice.Dis Model Mech. 2013 Sep;6(5):1146-58. doi: 10.1242/dmm.010967. Epub 2013 May 2.
• [15] Mutations in LRPAP1 are associated with severe myopia in humans. Am J Hum Genet. 2013 Aug 8;93(2):313-20. doi: 10.1016/j.ajhg.2013.06.002. Epub 2013 Jul 3.
• [16] Cytokine fibroblast growth factor 10 (FGF10) polymorphisms are associated with risk of myopia in young children.J Cell Biochem. 2019 Sep;120(9):15241-15247. doi: 10.1002/jcb.28790. Epub 2019 Apr 25.
• [17] A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins. Clin Genet. 2019 Mar;95(3):368-374. doi: 10.1111/cge.13485. Epub 2018 Dec 26.
• [18] Phenotype-genotype correlations in X linked retinitis pigmentosa.J Med Genet. 1992 Sep;29(9):615-23. doi: 10.1136/jmg.29.9.615.
• [19] A Genome-Wide Association Study for Susceptibility to Visual Experience-Induced Myopia.Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):559-569. doi: 10.1167/iovs.18-25597.
• [20] Prostaglandin F2 Receptor Modulation Affects Eye Development in Guinea Pigs.Basic Clin Pharmacol Toxicol. 2018 Sep;123(3):263-270. doi: 10.1111/bcpt.13017. Epub 2018 May 29.
• [21] The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.
• [22] Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort.Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):440-7. doi: 10.1167/iovs.10-5640.
• [23] Adenomatous Polyposis Coli Mutation Leads to Myopia Development in Mice.PLoS One. 2015 Oct 23;10(10):e0141144. doi: 10.1371/journal.pone.0141144. eCollection 2015.
• [24] SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1.
• [25] The myopia susceptibility locus vasoactive intestinal peptide receptor 2 (VIPR2) contains variants with opposite effects.Sci Rep. 2019 Dec 3;9(1):18165. doi: 10.1038/s41598-019-54619-8.
• [26] Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population.Genet Test Mol Biomarkers. 2018 Jun;22(6):359-365. doi: 10.1089/gtmb.2017.0235. Epub 2018 May 21.
• [27] Sequence variations of GRM6 in patients with high myopia.Mol Vis. 2009 Oct 19;15:2094-100.
• [28] Effects of the Tyrosinase-Dependent Dopaminergic System on Refractive Error Development in Guinea Pigs.Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4631-4638. doi: 10.1167/iovs.17-22315.
• [29] Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS Genet. 2012;8(6):e1002753. doi: 10.1371/journal.pgen.1002753. Epub 2012 Jun 7.
• [30] Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.J Biol Chem. 2015 Mar 27;290(13):8613-22. doi: 10.1074/jbc.M114.634915. Epub 2015 Feb 2.
• [31] Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.Clin Genet. 2018 May;93(5):982-991. doi: 10.1111/cge.13217. Epub 2018 Mar 5.
• [32] COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4080-6. doi: 10.1167/iovs.08-3346. Epub 2009 Apr 22.
• [33] Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.Nat Commun. 2018 May 14;9(1):1864. doi: 10.1038/s41467-018-03646-6.
• [34] Mller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.PLoS Genet. 2018 Mar 12;14(3):e1007244. doi: 10.1371/journal.pgen.1007244. eCollection 2018 Mar.
• [35] Heritability of myopia and its relation with GDJ2 and RASGRF1 genes in Lithuania.BMC Ophthalmol. 2018 May 24;18(1):124. doi: 10.1186/s12886-018-0787-1.
• [36] High myopia is not associated with single nucleotide polymorphisms in the COL2A1 gene in the Chinese population.Mol Med Rep. 2012 Jan;5(1):133-7. doi: 10.3892/mmr.2011.626. Epub 2011 Oct 11.
• [37] Association between SCO2 mutation and extreme myopia in Japanese patients.Jpn J Ophthalmol. 2016 Jul;60(4):319-25. doi: 10.1007/s10384-016-0442-4. Epub 2016 Apr 6.
• [38] The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18. Hum Mutat. 2013 Sep;34(9):1195-9. doi: 10.1002/humu.22374. Epub 2013 Jul 19.
• [39] Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.Am J Med Genet A. 2005 Jan 30;132A(3):283-7. doi: 10.1002/ajmg.a.30466.
• [40] Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
• [41] CCDC102B confers risk of low vision and blindness in high myopia.Nat Commun. 2018 May 3;9(1):1782. doi: 10.1038/s41467-018-03649-3.
• [42] Myopic (HD-PTP, PTPN23) selectively regulates synaptic neuropeptide release.Proc Natl Acad Sci U S A. 2018 Feb 13;115(7):1617-1622. doi: 10.1073/pnas.1716801115. Epub 2018 Jan 29.
• [43] Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes.PLoS One. 2016 Sep 19;11(9):e0162296. doi: 10.1371/journal.pone.0162296. eCollection 2016.
• [44] A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Am J Hum Genet. 2006 Sep;79(3):449-57. doi: 10.1086/506478. Epub 2006 Jun 26.
• [45] Surgical treatment of corneal dermoid by using intrastromal lenticule obtained from small-incision lenticule extraction.Int Ophthalmol. 2020 Jan;40(1):43-49. doi: 10.1007/s10792-019-01201-w. Epub 2019 Nov 17.
• [46] Polymorphism in the 11q24.1 genomic region is associated with myopia: a comprehensive genetic study in Chinese and Japanese populations.Mol Vis. 2014 Mar 21;20:352-8. eCollection 2014.
• [47] Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24.
• [48] Wnt signaling in form deprivation myopia of the mice retina.PLoS One. 2014 Apr 22;9(4):e91086. doi: 10.1371/journal.pone.0091086. eCollection 2014.
• [49] Increased Vertical Asymmetry of Macular Retinal Layers in Myopic Chinese Children.Curr Eye Res. 2019 Feb;44(2):225-235. doi: 10.1080/02713683.2018.1530360. Epub 2018 Oct 26.
• [50] Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.Hum Genet. 2018 Dec;137(11-12):881-896. doi: 10.1007/s00439-018-1942-8. Epub 2018 Oct 10.
• [51] Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259.
• [52] Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13.
• [53] Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations.J Zhejiang Univ Sci B. 2016 Mar;17(3):225-35. doi: 10.1631/jzus.B1500233.
• [54] Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25.
• [55] Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia.Gene. 2005 Jun 6;352:10-9. doi: 10.1016/j.gene.2005.02.019.
• [56] A novel missense mutation in the NYX gene associated with high myopia.Ophthalmic Physiol Opt. 2013 May;33(3):346-53. doi: 10.1111/opo.12036. Epub 2013 Feb 14.
• [57] Performance of a Quick Screening Version of the Nintendo 3DS PDI Check Game in Patients With Ocular Suppression.J Pediatr Ophthalmol Strabismus. 2019 Jul 1;56(4):234-237. doi: 10.3928/01913913-20190502-01.
• [58] Improving the structure-function relationship in glaucomatous and normative eyes by incorporating photoreceptor layer thickness.Sci Rep. 2018 Jul 11;8(1):10450. doi: 10.1038/s41598-018-28821-z.
• [59] Mitomycin C 0.02 and 0.002% efficacy in preventing haze after photorefractive keratectomy.Int Ophthalmol. 2019 Feb;39(2):341-345. doi: 10.1007/s10792-017-0817-7. Epub 2018 Jan 16.
• [60] Relationship between Aquaporin-1 Protein Expression and Choroidal Thickness during the Recovery of Form-deprivation Myopia in Guinea Pigs.Curr Eye Res. 2020 Jun;45(6):705-712. doi: 10.1080/02713683.2019.1689275. Epub 2019 Nov 19.
• [61] Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese.J Zhejiang Univ Sci B. 2010 Nov;11(11):836-41. doi: 10.1631/jzus.B1000001.
• [62] Down scaling of climate change scenarii to river basin level: A transdisciplinary methodology applied to Evrotas river basin, Greece.Sci Total Environ. 2019 Apr 10;660:1623-1632. doi: 10.1016/j.scitotenv.2018.12.369. Epub 2018 Dec 26.
• [63] A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.Hum Mol Genet. 2013 Jun 1;22(11):2325-33. doi: 10.1093/hmg/ddt066. Epub 2013 Feb 12.
• [64] Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453.
• [65] Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.Mol Vis. 2004 Nov 17;10:890-900.
• [66] De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.Am J Med Genet A. 2016 Jun;170(6):1566-9. doi: 10.1002/ajmg.a.37598. Epub 2016 Feb 19.