Details of Disease

General Information of Disease (ID: DISUD7SL)

Disease Name Cataract
Synonyms cataract; cataract (disease); opacity of the lens
Disease Class 9B10: Cataract
Definition
Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)
Disease Hierarchy
DISYKSRF: Genetic disease
DISF6ADC: Lens disorder
DISUD7SL: Cataract
ICD Code
ICD-11
ICD-11: 9B10
ICD-10
ICD-10: H26.9
ICD-9
ICD-9: 366
Expand ICD-11
'9B10
Expand ICD-10
'H26.9
Expand ICD-9
366
Disease Identifiers
MONDO ID
MONDO_0005129
MESH ID
D002386
UMLS CUI
C0086543
MedGen ID
39462
HPO ID
HP:0000518
SNOMED CT ID
193570009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 3 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Acetylcholine DMDF79Z Approved Small molecular drug [1]
Chondroitin DM9ZU1U Approved Small molecular drug [2]
Tirilazad mesylate DMCRIHP Approved Small molecular drug [2]
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This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
C-KAD DM5298Y Phase 2 NA [3]
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This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
LPO-1010CA DM3H1RN Investigative NA [4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 38 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADAM9 TTTYQNS Limited Genetic Variation [5]
AGK TTJETQC Limited Genetic Variation [6]
AHR TT037IE Limited Biomarker [7]
COMT TTKWFB8 Limited Genetic Variation [8]
DNMT1 TT6S2FE Limited Biomarker [9]
EBP TT4VQZX Limited Genetic Variation [10]
GJA1 TT4F7SL Limited Genetic Variation [11]
GJB6 TTAU8SJ Limited Biomarker [12]
NOD2 TTYPUHA Limited Biomarker [13]
OPA1 TTTU49Q Limited Biomarker [14]
WRN TT2H5WQ Limited Genetic Variation [15]
HLA-B TTGS10J Disputed Genetic Variation [16]
PMVK TTXMI0C Disputed Genetic Variation [17]
GJA3 TTFZRG0 moderate Biomarker [18]
AMD1 TTBFROQ Strong Biomarker [19]
APEH TTYWEDQ Strong Altered Expression [20]
ATM TTKBM7V Strong Biomarker [21]
BCL2L2 TTQ79W8 Strong Altered Expression [22]
CAPN2 TTG5QB7 Strong Altered Expression [23]
CHMP4B TT09EZF Strong Genetic Variation [24]
CNP TT71P0H Strong Biomarker [25]
CPE TTXPWO6 Strong Biomarker [26]
CYP51A1 TT67TDP Strong Genetic Variation [27]
DMPK TTZQTY2 Strong Genetic Variation [28]
EPHA2 TTRJB2G Strong Biomarker [29]
FDFT1 TTFQEO5 Strong Biomarker [30]
GJA8 TTJ7ATH Strong Altered Expression [31]
LSS TT7O8ZA Strong Biomarker [32]
MAP3K1 TTW8TJI Strong Genetic Variation [33]
MSRB1 TT1QUZV Strong Biomarker [34]
RPS6KB2 TTMVQXO Strong Genetic Variation [35]
SLC2A1 TT79TKF Strong Biomarker [36]
SLC33A1 TTL69WB Strong Biomarker [37]
TGFB2 TTI0KH6 Strong Biomarker [38]
TPT1 TT3PTB6 Strong Biomarker [39]
CNTF TTGEM5Q Definitive Biomarker [40]
CRYAA TT8CWJG Definitive Genetic Variation [41]
CRYAB TT7RUHB Definitive Genetic Variation [42]
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⏷ Show the Full List of 38 DTT(s)
This Disease Is Related to 6 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A4 DTWDEIL Limited Biomarker [43]
ATP2B1 DTJWQ1L Strong Biomarker [44]
SLC14A2 DT8QC7K Strong Biomarker [45]
SLC16A10 DTPAQJO Strong Biomarker [46]
SLC16A12 DTZOKFJ Strong Biomarker [47]
SLC7A2 DTWY9RT Strong Genetic Variation [48]
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⏷ Show the Full List of 6 DTP(s)
This Disease Is Related to 8 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP27A1 DEBS639 Limited Genetic Variation [49]
P3H2 DELB5PA Limited Genetic Variation [50]
DHCR7 DEL7GFA Strong Biomarker [36]
GSTM1 DEYZEJA Strong Genetic Variation [51]
GSTO2 DEHMPZR Strong Genetic Variation [52]
GSTT1 DE3PKUG Strong Genetic Variation [51]
MSRA DEU2ZBY Strong Altered Expression [53]
TKFC DEX9ZJQ Strong Biomarker [54]
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⏷ Show the Full List of 8 DME(s)
This Disease Is Related to 133 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIPL1 OT4VBD78 Limited Genetic Variation [55]
ALDOB OT7FR69A Limited Genetic Variation [33]
BUB1B OT8KME51 Limited Biomarker [56]
CD81 OTQFXNAZ Limited Biomarker [57]
COX1 OTG3O9BN Limited Biomarker [58]
COX3 OTNNGBYJ Limited Altered Expression [58]
CRYBA1 OT8617WJ Limited Altered Expression [59]
CRYGC OTYSTQWI Limited Genetic Variation [60]
CRYGS OTF5XS0C Limited Genetic Variation [61]
DHDDS OTVLYBUS Limited Biomarker [62]
ERCC2 OT1C8HQ4 Limited Biomarker [63]
FBN1 OTYCJT63 Limited Biomarker [64]
INPP5B OT0SC8W5 Limited Biomarker [65]
IPO13 OT887N3O Limited Genetic Variation [66]
JAG1 OT3LGT6K Limited Biomarker [67]
NHS OTKE8QAT Limited Biomarker [68]
OR2AG1 OTEITRP4 Limited Genetic Variation [69]
PAX6 OTOC9876 Limited Genetic Variation [70]
PISD OTP9COQT Limited Biomarker [71]
PITX2 OTWMXAOY Limited Biomarker [72]
PLOD3 OTT00T7Q Limited Biomarker [73]
SMAD4 OTWQWCKG Limited Altered Expression [74]
SOX8 OTEJXYZM Limited Biomarker [75]
TBC1D20 OTDL1T6E Limited Genetic Variation [76]
TGFBI OTR443C5 Limited Biomarker [77]
TIMP4 OT8A68SW Disputed Biomarker [78]
CTDP1 OTHHFW17 moderate Genetic Variation [79]
FAR1 OTLHTYIE moderate Biomarker [80]
LIM2 OTK7R6HC moderate Biomarker [81]
RAB18 OTNMAQLS moderate Genetic Variation [82]
RAB3GAP1 OT4DQ8F2 moderate Genetic Variation [82]
RAB3GAP2 OTQTE0GI moderate Genetic Variation [82]
TDRD7 OTK639ET moderate Biomarker [83]
ABHD12 OTDP4F02 Strong Genetic Variation [84]
ACSM3 OT0AE1IV Strong Biomarker [85]
ACTB OT1MCP2F Strong Altered Expression [86]
AFF1 OTT2C78E Strong Genetic Variation [87]
AFM OTPOR8IO Strong Biomarker [88]
ALDH18A1 OT6W40XU Strong Genetic Variation [89]
ALDH3A1 OTAYZZE6 Strong Biomarker [90]
ARC OTN2QQPG Strong Biomarker [91]
ATP2B2 OT1NPZ9T Strong Altered Expression [92]
BFSP1 OTXZ3YIU Strong Biomarker [93]
BFSP2 OT3QREFR Strong Genetic Variation [94]
BLM OTEJOAJX Strong Biomarker [95]
BPTF OTD1RZAD Strong CausalMutation [96]
CALR3 OTO4WCU9 Strong Biomarker [97]
CAPN15 OT0WE161 Strong Biomarker [98]
CFAP97 OT0RSQO4 Strong Biomarker [99]
CHPT1 OT4FJ0K3 Strong Biomarker [62]
CHST1 OT2GRC5R Strong Genetic Variation [100]
CLPB OT1I0IBK Strong Biomarker [101]
CLRN1 OT1ADI7Q Strong Genetic Variation [102]
COL2A1 OT5E59C8 Strong Biomarker [103]
COL4A1 OTL6D1YE Strong Genetic Variation [104]
CRYBB2 OTL0Z8E6 Strong Genetic Variation [105]
CRYBB3 OTTGTQIQ Strong Genetic Variation [106]
CRYGB OTU4GEMD Strong Genetic Variation [107]
CRYL1 OT0SJSJM Strong Genetic Variation [108]
CRYM OTRGSR6B Strong Genetic Variation [109]
DMBX1 OT43YF6N Strong Biomarker [110]
DMRTA1 OTRZY9E9 Strong Altered Expression [111]
DNMBP OTMHH14H Strong Genetic Variation [112]
EFNA5 OTOH4DRR Strong Genetic Variation [113]
FBLN7 OT1XRDP6 Strong Altered Expression [114]
FOXE3 OTAUDKC1 Strong Genetic Variation [115]
FTL OTYQA8A6 Strong Genetic Variation [116]
GALT OTCATU66 Strong Biomarker [36]
GCNT2 OTRUIMC4 Strong Genetic Variation [117]
GEMIN4 OTX7402E Strong Genetic Variation [27]
GIT2 OTQ2EQJ1 Strong Genetic Variation [48]
GSPT1 OT18H1B0 Strong Genetic Variation [100]
HGD OTTKLQOO Strong Genetic Variation [118]
HSF4 OT1UX9SK Strong Genetic Variation [119]
HSPA1L OTC2V1K6 Strong Genetic Variation [120]
IFNGR1 OTCTQBWW Strong Genetic Variation [121]
IL2RG OTRZ3OMY Strong Genetic Variation [122]
INPP5K OTQFLQKA Strong Genetic Variation [123]
INTS1 OT7TY1M1 Strong Altered Expression [124]
KCNJ13 OTG1CNND Strong Genetic Variation [125]
KIF1B OTI1XQTO Strong Genetic Variation [126]
KRT1 OTIOJWA4 Strong Biomarker [127]
LAMA3 OTFME7HT Strong Biomarker [128]
LAT2 OTWJDKIH Strong Genetic Variation [46]
LOXL1 OTA0NEJU Strong Genetic Variation [129]
MAF OT1GR3IZ Strong Genetic Variation [130]
MBNL1 OTOV7J85 Strong Biomarker [131]
MEF2C OTZGF1Y5 Strong Biomarker [33]
MIP OTEBLU3E Strong Biomarker [132]
MRPL13 OT6D8Y9G Strong Altered Expression [133]
MYH9 OT94Z706 Strong Biomarker [134]
NCOA6 OTOMIGTV Strong Biomarker [135]
NDRG2 OT5L6KD7 Strong Biomarker [136]
NLRP12 OTGR132Z Strong Genetic Variation [137]
OCRL OTQ3L42N Strong Genetic Variation [138]
OPA3 OT6NDC1M Strong Biomarker [139]
OPN4 OT1LZ7TS Strong Biomarker [140]
PACC1 OTKBS8CC Strong Biomarker [141]
PANK4 OTMLNEPU Strong Altered Expression [142]
PHEX OTG7N3J7 Strong Biomarker [143]
PLXNA2 OTNNBJMQ Strong Biomarker [144]
PLXNA3 OTMZIBVG Strong Biomarker [145]
POLG OTDUCT04 Strong Genetic Variation [146]
POLR3B OT3FS9MB Strong Genetic Variation [147]
PRDX6 OTS8KC8A Strong Altered Expression [148]
PYDC1 OTC2DD7L Strong Biomarker [135]
RGN OTD04KB1 Strong Biomarker [149]
RHOJ OTWI65OA Strong Biomarker [150]
RIC1 OT3X4606 Strong Genetic Variation [27]
RNASE3 OTVE2XD1 Strong Biomarker [151]
RPL13A OTME3VXN Strong Altered Expression [133]
RPL21 OT74GE74 Strong Altered Expression [133]
SC5D OT41KMW4 Strong Biomarker [152]
SELENOF OT2JFB3S Strong Biomarker [153]
SIPA1L3 OTNYFUM3 Strong Posttranslational Modification [154]
SIX5 OTT1I9WY Strong Altered Expression [155]
SLC26A8 OTNCW8RJ Strong Biomarker [46]
ST3GAL4 OTNENJZQ Strong Biomarker [156]
STOM OTC8R6EH Strong Genetic Variation [157]
TAF1A OTEH7OFT Strong Biomarker [27]
TBPL2 OTDEC1KO Strong Biomarker [158]
TCP1 OT1MGUX9 Strong Biomarker [159]
TMEM114 OTLVG8X3 Strong Biomarker [160]
TNMD OTHLVA9G Strong Biomarker [161]
TPM2 OTA1L0P8 Strong Biomarker [162]
TRIM69 OTTEGTRD Strong Altered Expression [163]
TRNT1 OTD57ILL Strong Genetic Variation [164]
TRPV5 OTWF4L0U Strong Genetic Variation [48]
CCL16 OTOOQI1F Definitive Biomarker [165]
ERCC6 OT2QZKSF Definitive Biomarker [166]
PEX13 OTXUAYEW Definitive Biomarker [167]
PITX3 OTE2KT8P Definitive Biomarker [168]
SEC23A OTBRNIJ3 Definitive Genetic Variation [169]
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⏷ Show the Full List of 133 DOT(s)

References

1 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 294).
2 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
3 ClinicalTrials.gov (NCT00793091) Safety and Efficacy Study of an Ophthalmic Solution in Patients With Age-Related Cataract. U.S. National Institutes of Health.
4 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
5 Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.Br J Ophthalmol. 2014 Dec;98(12):1718-23. doi: 10.1136/bjophthalmol-2014-305231. Epub 2014 Aug 4.
6 Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Mol Cell. 2017 Aug 3;67(3):471-483.e7.
7 Association of Cataract Surgery With Mortality in Older Women: Findings from the Women's Health Initiative.JAMA Ophthalmol. 2018 Jan 1;136(1):3-10. doi: 10.1001/jamaophthalmol.2017.4512.
8 Polymorphism of estrogen metabolism genes and cataract. Med Hypotheses. 2004;63(3):494-7.
9 DNA hypermethylation-mediated downregulation of antioxidant genes contributes to the early onset of cataracts in highly myopic eyes.Redox Biol. 2018 Oct;19:179-189. doi: 10.1016/j.redox.2018.08.012. Epub 2018 Aug 23.
10 Adult presentation of X-linked Conradi-Hnermann-Happle syndrome.Am J Med Genet A. 2015 Jun;167(6):1309-14. doi: 10.1002/ajmg.a.36899. Epub 2015 Apr 2.
11 The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.Exp Cell Res. 2009 Apr 1;315(6):1063-75. doi: 10.1016/j.yexcr.2009.01.017. Epub 2009 Jan 30.
12 Connexinopathies: a structural and functional glimpse.BMC Cell Biol. 2016 May 24;17 Suppl 1(Suppl 1):17. doi: 10.1186/s12860-016-0092-x.
13 Bilateral congenital macular coloboma and cataract: A case report.Medicine (Baltimore). 2019 Mar;98(11):e14803. doi: 10.1097/MD.0000000000014803.
14 Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4.
15 The associations between single nucleotide polymorphisms of DNA repair genes, DNA damage, and age-related cataract: Jiangsu Eye Study.Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1201-7. doi: 10.1167/iovs.12-10940.
16 Genetic and non-genetic factors affecting the visual outcome of ocular Behcet's disease.Hum Immunol. 2013 Oct;74(10):1363-7. doi: 10.1016/j.humimm.2013.06.036. Epub 2013 Jul 2.
17 Molecular functions of conserved aspects of the GHMP kinase family.Biochemistry. 2004 Nov 23;43(46):14594-601. doi: 10.1021/bi048963o.
18 Cx46 hemichannel modulation by nitric oxide: Role of the fourth transmembrane helix cysteine and its possible involvement in cataract formation.Nitric Oxide. 2019 May 1;86:54-62. doi: 10.1016/j.niox.2019.02.007. Epub 2019 Feb 21.
19 The optokinetic response is effective to assess objective visual acuity in patients with cataract and age-related macular degeneration.Int Ophthalmol. 2019 Aug;39(8):1783-1792. doi: 10.1007/s10792-018-1001-4. Epub 2018 Aug 14.
20 Lens crystallin modifications and cataract in transgenic mice overexpressing acylpeptide hydrolase.J Biol Chem. 2014 Mar 28;289(13):9039-52. doi: 10.1074/jbc.M113.510677. Epub 2014 Feb 19.
21 The relative biological effectiveness of densely ionizing heavy-ion radiation for inducing ocular cataracts in wild type versus mice heterozygous for the ATM gene.Radiat Environ Biophys. 2006 Jul;45(2):99-104. doi: 10.1007/s00411-006-0052-5. Epub 2006 Jun 24.
22 Down-Regulation of MicroRNA-133b Suppresses Apoptosis of Lens Epithelial Cell by Up-Regulating BCL2L2 in Age-Related Cataracts.Med Sci Monit. 2016 Nov 1;22:4139-4145. doi: 10.12659/msm.896975.
23 Changes in calpain II mRNA in young rat lens during maturation and cataract formation.Exp Eye Res. 1997 Mar;64(3):437-45. doi: 10.1006/exer.1996.0229.
24 A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation.Differentiation. 2019 Sep-Oct;109:16-27. doi: 10.1016/j.diff.2019.07.003. Epub 2019 Jul 31.
25 2',3'-Cyclic-nucleotide 3'-phosphodiesterase contributes to epithelial-mesenchymal transition of lens epithelial cells through the notch signalling pathway.Cell Prolif. 2019 Nov;52(6):e12707. doi: 10.1111/cpr.12707. Epub 2019 Oct 16.
26 Human and monkey lenses cultured with calcium ionophore form alphaB-crystallin lacking the C-terminal lysine, a prominent feature of some human cataracts.Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5828-36. doi: 10.1167/iovs.09-4015. Epub 2009 Jul 15.
27 Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Hum Genet. 2017 Feb;136(2):205-225. doi: 10.1007/s00439-016-1747-6. Epub 2016 Nov 22.
28 Patients with primary cataract as a genetic pool of DMPK protomutation.J Hum Genet. 2007;52(2):123-128. doi: 10.1007/s10038-006-0091-4. Epub 2006 Dec 5.
29 Epha2 genotype influences ultraviolet radiation induced cataract in mice.Exp Eye Res. 2019 Nov;188:107806. doi: 10.1016/j.exer.2019.107806. Epub 2019 Sep 17.
30 Lens cholesterol biosynthesis inhibition: A common mechanism of cataract formation in laboratory animals by pharmaceutical products.J Appl Toxicol. 2019 Sep;39(9):1348-1361. doi: 10.1002/jat.3822. Epub 2019 Jun 24.
31 New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.
32 Protective Effects of Lanosterol Synthase Up-Regulation in UV-B-Induced Oxidative Stress.Front Pharmacol. 2019 Aug 29;10:947. doi: 10.3389/fphar.2019.00947. eCollection 2019.
33 Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.Mol Vis. 2014 Sep 19;20:1281-95. eCollection 2014.
34 Effect of methionine sulfoxide reductase B1 silencing on high-glucose-induced apoptosis of human lens epithelial cells.Life Sci. 2013 Feb 27;92(3):193-201. doi: 10.1016/j.lfs.2012.11.021. Epub 2012 Dec 24.
35 Comparison of refractive outcomes using conventional keratometry or total keratometry for IOL power calculation in cataract surgery.Graefes Arch Clin Exp Ophthalmol. 2019 Dec;257(12):2677-2682. doi: 10.1007/s00417-019-04443-7. Epub 2019 Sep 5.
36 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
37 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
38 ERK1/2-mediated EGFR-signaling is required for TGF-induced lens epithelial-mesenchymal transition.Exp Eye Res. 2019 Jan;178:108-121. doi: 10.1016/j.exer.2018.09.021. Epub 2018 Oct 2.
39 Some Biological Consequences of the Inhibition of Na,K-ATPase by Translationally Controlled Tumor Protein (TCTP).Int J Mol Sci. 2018 Jun 4;19(6):1657. doi: 10.3390/ijms19061657.
40 Ciliary neurotrophic factor in patients with primary open-angle glaucoma and age-related cataract.Mol Vis. 2017 Nov 17;23:799-809. eCollection 2017.
41 A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.Bosn J Basic Med Sci. 2017 May 20;17(2):114-119. doi: 10.17305/bjbms.2017.1745.
42 Structural and functional characterization of D109H and R69C mutant versions of human B-crystallin: The biochemical pathomechanism underlying cataract and myopathy development.Int J Biol Macromol. 2020 Mar 1;146:1142-1160. doi: 10.1016/j.ijbiomac.2019.09.239. Epub 2019 Oct 31.
43 NBCe1A dimer assemble visualized by bimolecular fluorescence complementation.Am J Physiol Renal Physiol. 2014 Mar 15;306(6):F672-80. doi: 10.1152/ajprenal.00284.2013. Epub 2014 Jan 29.
44 Changes in plasma membrane Ca2+ -ATPase expression and ATP content in lenses of hereditary cataract UPL rats.Toxicology. 2004 Apr 15;197(2):177-83. doi: 10.1016/j.tox.2004.01.002.
45 MiRNAs regulate oxidative stress related genes via binding to the 3' UTR and TATA-box regions: a new hypothesis for cataract pathogenesis.BMC Ophthalmol. 2017 Aug 14;17(1):142. doi: 10.1186/s12886-017-0537-9.
46 Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019.
47 Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.Hum Mol Genet. 2017 Nov 1;26(21):4203-4214. doi: 10.1093/hmg/ddx310.
48 Cataract mutations and lens development.Prog Retin Eye Res. 1999 Mar;18(2):235-67. doi: 10.1016/s1350-9462(98)00018-4.
49 A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.Metab Brain Dis. 2017 Apr;32(2):311-315. doi: 10.1007/s11011-017-9971-x. Epub 2017 Feb 22.
50 Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.Clin Genet. 2014 Dec;86(6):575-9. doi: 10.1111/cge.12309. Epub 2013 Nov 26.
51 Polymorphism of GST and FTO Genes in Risk Prediction of Cataract among a North Indian Population.Ophthalmic Genet. 2016;37(1):19-24. doi: 10.3109/13816810.2014.907921. Epub 2014 Apr 22.
52 Glutathione S-transferase omega-2 polymorphism Asn142Asp modifies the risk of age-related cataract in smokers and subjects exposed to ultraviolet irradiation.Clin Exp Ophthalmol. 2014 Apr;42(3):277-83. doi: 10.1111/ceo.12180. Epub 2013 Sep 24.
53 Deletion of mouse MsrA results in HBO-induced cataract: MsrA repairs mitochondrial cytochrome c.Mol Vis. 2009 May 15;15:985-99.
54 Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. Am J Hum Genet. 2020 Feb 6;106(2):256-263. doi: 10.1016/j.ajhg.2020.01.005. Epub 2020 Jan 30.
55 The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029.
56 Reduced life- and healthspan in mice carrying a mono-allelic BubR1 MVA mutation.PLoS Genet. 2012;8(12):e1003138. doi: 10.1371/journal.pgen.1003138. Epub 2012 Dec 27.
57 Double deletion of tetraspanins CD9 and CD81 in mice leads to a syndrome resembling accelerated aging.Sci Rep. 2018 Mar 23;8(1):5145. doi: 10.1038/s41598-018-23338-x.
58 Changes in mitochondrial cytochrome c oxidase mRNA levels with cataract severity in lens epithelia of Japanese patients.Mol Med Rep. 2019 Jun;19(6):5464-5472. doi: 10.3892/mmr.2019.10214. Epub 2019 May 2.
59 The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts.BMC Med Genet. 2019 Sep 5;20(1):153. doi: 10.1186/s12881-019-0882-z.
60 A novel mutation impairing the tertiary structure and stability of C-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.Hum Mutat. 2012 Feb;33(2):391-401. doi: 10.1002/humu.21648. Epub 2011 Dec 8.
61 Structure of G57W mutant of human S-crystallin and its involvement in cataract formation.J Struct Biol. 2019 Mar 1;205(3):72-78. doi: 10.1016/j.jsb.2019.02.003. Epub 2019 Feb 12.
62 Racial/ethnic differences in rates of complex cataract surgery among United States Medicare beneficiaries.J Cataract Refract Surg. 2018 Feb;44(2):140-143. doi: 10.1016/j.jcrs.2017.10.049. Epub 2018 Mar 7.
63 XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: a meta-analysis.Mol Vis. 2015 Mar 30;21:335-46. eCollection 2015.
64 Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.J AAPOS. 2014 Apr;18(2):134-9. doi: 10.1016/j.jaapos.2013.11.012.
65 Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.PLoS One. 2013 Jun 21;8(6):e66727. doi: 10.1371/journal.pone.0066727. Print 2013.
66 Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.Exp Mol Med. 2018 Apr 27;50(4):1-11. doi: 10.1038/s12276-018-0079-0.
67 MicroRNA-26a and -26b inhibit lens fibrosis and cataract by negatively regulating Jagged-1/Notch signaling pathway.Cell Death Differ. 2017 Nov;24(11):1990. doi: 10.1038/cdd.2017.147. Epub 2017 Sep 22.
68 Going paperless: improved cataract surgery outcome data quality in a new fully electronic unit.Eye (Lond). 2019 Jun;33(6):948-952. doi: 10.1038/s41433-019-0350-1. Epub 2019 Feb 11.
69 Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract.Mol Vis. 2010 Jul 1;16:1206-14.
70 Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.Mol Med Rep. 2018 Nov;18(5):4439-4445. doi: 10.3892/mmr.2018.9469. Epub 2018 Sep 10.
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76 Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.BMC Genet. 2014 Dec 5;15:135. doi: 10.1186/s12863-014-0135-2.
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78 TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients.Mol Vis. 2015 Oct 13;21:1162-72. eCollection 2015.
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80 A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.
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82 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013.10.011. Epub 2013 Nov 14.
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84 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.J Neurol Sci. 2018 Apr 15;387:134-138. doi: 10.1016/j.jns.2018.02.021. Epub 2018 Feb 7.
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100 Frequency of glutathione-S-transferase 1 gene deletion and its possible correlation with cataract formation.Exp Eye Res. 1995 Feb;60(2):159-63. doi: 10.1016/s0014-4835(95)80006-9.
101 A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J Inherit Metab Dis. 2017 Nov;40(6):853-860. doi: 10.1007/s10545-017-0057-z. Epub 2017 Jul 7.
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103 Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).Am J Hum Genet. 1993 Jul;53(1):55-61.
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105 Crybb2 Mutations Consistently Affect Schizophrenia Endophenotypes in Mice.Mol Neurobiol. 2019 Jun;56(6):4215-4230. doi: 10.1007/s12035-018-1365-5. Epub 2018 Oct 6.
106 Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.Mol Vis. 2016 Jun 8;22:589-98. eCollection 2016.
107 Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract. J Postgrad Med. 2011 Jul-Sep;57(3):201-5. doi: 10.4103/0022-3859.85205.
108 A Comparative Study of the Impact of Calcium Ion on Structure, Aggregation and Chaperone Function of Human A-crystallin and its Cataract- Causing R12C Mutant.Protein Pept Lett. 2017;24(11):1048-1058. doi: 10.2174/0929866524666170807125658.
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110 Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract.Turk J Pediatr. 2007 Jul-Sep;49(3):334-6.
111 Risk factors for diabetic macular oedema in type 2 diabetes: A case-control study in a United Kingdom primary care setting.Prim Care Diabetes. 2017 Jun;11(3):288-296. doi: 10.1016/j.pcd.2017.03.002. Epub 2017 Apr 7.
112 Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. Am J Hum Genet. 2018 Oct 4;103(4):568-578. doi: 10.1016/j.ajhg.2018.09.004.
113 Epha2 and Efna5 participate in lens cell pattern-formation.Differentiation. 2018 Jul-Aug;102:1-9. doi: 10.1016/j.diff.2018.05.002. Epub 2018 May 17.
114 Spiroplasma eriocheiris Adhesin-Like Protein (ALP) Interacts with Epidermal Growth Factor (EGF) Domain Proteins to Facilitate Infection.Front Cell Infect Microbiol. 2017 Jan 26;7:13. doi: 10.3389/fcimb.2017.00013. eCollection 2017.
115 A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans.Hum Genet. 2018 Apr;137(4):315-328. doi: 10.1007/s00439-018-1884-1. Epub 2018 Apr 30.
116 A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.Acta Ophthalmol. 2018 Feb;96(1):95-99. doi: 10.1111/aos.13492. Epub 2017 Jun 21.
117 An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. Hum Genet. 2012 Feb;131(2):209-16. doi: 10.1007/s00439-011-1062-1. Epub 2011 Jul 15.
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119 Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.BMC Med Genet. 2019 Dec 16;20(1):196. doi: 10.1186/s12881-019-0933-5.
120 Genetic polymorphisms of HSP70 in age-related cataract.Cell Stress Chaperones. 2013 Nov;18(6):703-9. doi: 10.1007/s12192-013-0420-4. Epub 2013 May 11.
121 Genetic polymorphisms in the promoter of the interferon gamma receptor 1 gene are associated with atopic cataracts. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):583-9.
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123 INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.Clin Genet. 2018 Mar;93(3):682-686. doi: 10.1111/cge.13143. Epub 2018 Feb 5.
124 Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.Eur J Hum Genet. 2019 Apr;27(4):582-593. doi: 10.1038/s41431-018-0298-9. Epub 2019 Jan 8.
125 A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.Ophthalmic Genet. 2015 Mar;36(1):79-84. doi: 10.3109/13816810.2014.985846. Epub 2014 Dec 5.
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128 Influence of cataract light scatters on retinal vessel oxygen saturation.Acta Ophthalmol. 2020 Feb;98(1):e56-e62. doi: 10.1111/aos.14200. Epub 2019 Oct 25.
129 Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits.Acta Ophthalmol. 2015 May;93(3):e214-7. doi: 10.1111/aos.12534. Epub 2014 Aug 12.
130 Differential effect of cataract-associated mutations in MAF on transactivation of MAF target genes.Mol Cell Biochem. 2014 Nov;396(1-2):137-45. doi: 10.1007/s11010-014-2150-z. Epub 2014 Jul 27.
131 Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1.Biochem J. 2014 Mar 1;458(2):267-80. doi: 10.1042/BJ20130870.
132 Deletion of Seventeen Amino Acids at the C-Terminal End of Aquaporin 0 Causes Distortion Aberration and Cataract in the Lenses of AQP0C/C Mice.Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):858-867. doi: 10.1167/iovs.18-26378.
133 Decreased expression of ribosomal proteins in human age-related cataract.Invest Ophthalmol Vis Sci. 2002 Jan;43(1):198-204.
134 MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.J Pediatr Hematol Oncol. 2012 Aug;34(6):412-5. doi: 10.1097/MPH.0b013e318257a64b.
135 Multiple developmental defects derived from impaired recruitment of ASC-2 to nuclear receptors in mice: implication for posterior lenticonus with cataract.Mol Cell Biol. 2002 Dec;22(24):8409-14. doi: 10.1128/MCB.22.24.8409-8414.2002.
136 Up-regulation of NDRG2 in senescent lens epithelial cells contributes to age-related cataract in human. PLoS One. 2011;6(10):e26102. doi: 10.1371/journal.pone.0026102. Epub 2011 Oct 17.
137 Spontaneously Hypertensive Rat Chromosome 2 with Mutant Connexin 50 Triggers Divergent Effects on Metabolic Syndrome Components.Folia Biol (Praha). 2017;63(2):67-77.
138 Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study.Semin Ophthalmol. 2018;33(5):613-619. doi: 10.1080/08820538.2017.1375124. Epub 2017 Oct 9.
139 Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014-0416-y. Epub 2014 Aug 27.
140 Melanopsin-Mediated Acute Light Responses Measured in Winter and in Summer: Seasonal Variations in Adults with and without Cataracts.Front Neurol. 2017 Sep 11;8:464. doi: 10.3389/fneur.2017.00464. eCollection 2017.
141 The effect of phacoemulsification plus goniosynechialysis in acute and chronic angle closure patients with extensive goniosynechiae.BMC Ophthalmol. 2019 Mar 4;19(1):65. doi: 10.1186/s12886-019-1070-9.
142 A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. Hum Mutat. 2019 Apr;40(4):380-391. doi: 10.1002/humu.23696. Epub 2019 Jan 23.
143 Late in-the-bag spontaneous IOL dislocation: risk factors and surgical outcomes.Int J Ophthalmol. 2019 Jun 18;12(6):954-960. doi: 10.18240/ijo.2019.06.12. eCollection 2019.
144 Quality factor based correction for SD-OCT measurements in cataract patients.Acta Ophthalmol. 2020 Feb;98(1):43-47. doi: 10.1111/aos.14153. Epub 2019 Jun 18.
145 ACE inhibitor use and risk of cataract: a case-control analysis.Br J Ophthalmol. 2019 Nov;103(11):1561-1565. doi: 10.1136/bjophthalmol-2018-312980. Epub 2019 Feb 7.
146 Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Eur J Hum Genet. 2018 Mar;26(3):367-373. doi: 10.1038/s41431-017-0003-4. Epub 2018 Jan 22.
147 Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Clin Neuroradiol. 2017 Jun;27(2):213-220. doi: 10.1007/s00062-015-0472-1. Epub 2015 Oct 19.
148 Functional role of peroxiredoxin 6 in the eye.Free Radic Biol Med. 2018 Oct;126:210-220. doi: 10.1016/j.freeradbiomed.2018.08.017. Epub 2018 Aug 16.
149 Downregulation of SMP30 in senescent human lens epithelial cells.Mol Med Rep. 2017 Oct;16(4):4022-4028. doi: 10.3892/mmr.2017.7106. Epub 2017 Jul 27.
150 A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23.J Med Genet. 2006 Oct;43(10):e50. doi: 10.1136/jmg.2005.034876.
151 Phacoemulsification plus endoscopic cyclophotocoagulation versus phacoemulsification alone in primary open-angle glaucoma.Eur J Ophthalmol. 2018 Mar;28(2):168-174. doi: 10.5301/ejo.5001034.
152 Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.JIMD Rep. 2019;44:79-84. doi: 10.1007/8904_2018_127. Epub 2018 Aug 11.
153 Roles of the 15-kDa selenoprotein (Sep15) in redox homeostasis and cataract development revealed by the analysis of Sep 15 knockout mice.J Biol Chem. 2011 Sep 23;286(38):33203-12. doi: 10.1074/jbc.M111.259218. Epub 2011 Jul 18.
154 Screening of methylation genes in age-related cataract.Int J Ophthalmol. 2018 Jul 18;11(7):1102-1107. doi: 10.18240/ijo.2018.07.05. eCollection 2018.
155 Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.Hum Mol Genet. 1999 Mar;8(3):481-92. doi: 10.1093/hmg/8.3.481.
156 Reduction of oxidative-nitrosative stress underlies anticataract effect of topically applied tocotrienol in streptozotocin-induced diabetic rats.PLoS One. 2017 Mar 28;12(3):e0174542. doi: 10.1371/journal.pone.0174542. eCollection 2017.
157 Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77. doi: 10.1182/blood-2010-12-326645. Epub 2011 Jul 26.
158 The Function of Thioredoxin-Binding Protein-2 (TBP-2) in Different Diseases.Oxid Med Cell Longev. 2018 May 2;2018:4582130. doi: 10.1155/2018/4582130. eCollection 2018.
159 Intraocular lens power calculation using a Placido disk-Scheimpflug tomographer in eyes that had previous myopic corneal excimer laser surgery.J Cataract Refract Surg. 2018 Aug;44(8):935-941. doi: 10.1016/j.jcrs.2018.05.018. Epub 2018 Jul 23.
160 The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.FEBS Lett. 2011 Jul 21;585(14):2187-92. doi: 10.1016/j.febslet.2011.05.060. Epub 2011 Jun 16.
161 Anterior lens epithelium in cataract patients with retinitis pigmentosa - scanning and transmission electron microscopy study.Acta Ophthalmol. 2017 May;95(3):e212-e220. doi: 10.1111/aos.13250. Epub 2016 Sep 28.
162 Tropomyosin 2 heterozygous knockout in mice using CRISPR-Cas9 system displays the inhibition of injury-induced epithelial-mesenchymal transition, and lens opacity.Mech Ageing Dev. 2018 Apr;171:24-30. doi: 10.1016/j.mad.2018.03.001. Epub 2018 Mar 3.
163 TRIM69 inhibits cataractogenesis by negatively regulating p53.Redox Biol. 2019 Apr;22:101157. doi: 10.1016/j.redox.2019.101157. Epub 2019 Mar 2.
164 Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol.2015.5833.
165 Age-related aqueous humor (AH) and lens epithelial cell/capsule protein carbonylation and AH protein concentration in cataract patients who have pseudoexfoliative diseases.Mol Vis. 2018 Dec 31;24:890-901. eCollection 2018.
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169 Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12.