Lim Por-yen Eye Genetics Research Centre

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Overview

The Lim Por-yen Eye Genetics Research Centre was established in 2004 with a generous donation by the late Mr Lim Por-yen to facilitate basic and translational research of genetic eye diseases. Since then we have more than 100 major publications on genetic eye diseases and genetic technologies in international journals attributed to the Centre.

The Centre is equipped with high-throughput genotyping and sequencing equipment. We are capable to conduct  genetic testing for a large number of patients within a short time.

We have also identified a number of new genes and gene variants for major eye diseases, including age-related macular degeneration (AMD), polypoidal choroidal vasculopathy (PCV), primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG), and myopia. These genes will be incorporated into genetic arrays for future genetic testing, diagnostics and consultation for our patients.

Personnel

clement tham_2020

Prof Clement CY THAM

Pang CP photo_1

Prof Calvin CP PANG

Dr Guy LJ CHEN

Dr Jason CS YAM

Dr CHU Wai Kit

MS Pancy OS TAM

Laboratory Manager

Dr LU Shiyao

Postdoctoral Fellow

Ms CHEN Zhenji

PhD Student

Ms CHOI Wing Sze

Research Assistant

Genetics Publications

Glaucoma

1.Lu SY, Rong SS, Wu Z, Huang C, Matsushita K, Ng TK, Leung CKS, Kawashima R, Usui S, Tam POS, Tsujikawa M, Young AL, Zhang M, Wiggs JL, Nishida K, Tham CC, Pang CP, Chen LJ. Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese. Clin Exp Ophthalmol. 2020 Jul;48(5):658-665.

2.He JN, Lu S, Chen LJ, Tam POS, Zhang BN, Leung CKS, Pang CP, Tham CCY, Chu WK. Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients. Dis Markers. 2019 May 6;2019:5820537.

3.Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, SunX, Zhu W, Li DY, Pasutto F, Yang Z. Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genet Med. 2019 Oct;21(10):2345-2354.

4.Rong SS, Lu SY, Matsushita K, Huang C, Leung CKS, Kawashima R, Usui S, Tam POS, Young AL, Tsujikawa M, Zhang M, Nishida K, Wiggs JL, Tham CC, Pang CP, Chen LJ. Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese. Exp Eye Res. 2019 Mar;180:129-136.

5.Huang C, Xie L, Wu Z, Cao Y, Zheng Y, Pang CP, Zhang M. Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing. Sci Rep. 2018 Mar 14;8(1):4498.

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Macular Diseases

1.Chen ZJ, Ma L, Brelen ME, Chen H, Tsujikawa M, Lai TY, Ho M, Sayanagi K, Hara C, Hashida N, Tam PO, Young AL, Nishida K, Tham CC, Pang CP, Chen LJ. Identification of TIE2 as a susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Br J Ophthalmol. 2020 Mar 9:bjophthalmol-2019-315746.

2.Liu K, Ma L, Lai TYY, Brelen ME, Tam POS, Tham CC, Pang CP, Chen LJ. Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Eye Vis (Lond). 2019 Nov 7;6:34.

3.Ma L, Ng TK, Chen H, Brelén ME, Lai TYY, Ho M, Tam POS, Young AL, Chen W, Tham CC, Pang CP, Chen LJ. Identification and characterization of a novel promoter variant in placental growth factor for neovascular age-related macular degeneration. Exp Eye Res. 2019 Oct;187:107748.

4.Huang L, Zhang X, Tam POS, Chen H, Hao F, Pang CP, Wen F, Yang Z. Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population. J Hum Genet. 2018 Oct;63(10):1055-1070.

5.Fan Q, Maranville JC, Fritsche L, Sim X, Cheung CMG, Chen LJ, Gorski M, Yamashiro K, Ahn J, Laude A, Dorajoo R, Lim TH, Teo YY, Blaustein RO, Yoshimura N, Park KH, Pang CP, Tai ES, Khor CC, Wong TY, Runz H, Cheng CY. HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization. Int J Epidemiol. 2017 Dec 1;46(6):1891-1902.

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Myopia and Refractive Errors

1.Li FF, Lu SY, Tang SM, Kam KW, Pancy O S T, Yip WWK, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ. Genetic associations of myopia severities and endophenotypes in children. Br J Ophthalmol. 2020 Aug 14:bjophthalmol-2020-316728.

2.Lu SY, Tang SM, Li FF, Kam KW, Tam POS, Yip WWK, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ. Association of WNT7B and RSPO1 with Axial Length in School Children. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):11.

3.Tang SM, Li FF, Lu SY, Kam KW, Tam POS, Tham CC, Pang CP, Yam JCS, Chen LJ. Association of the ZC3H11B, ZFHX1B  and SNTB1  genes with myopia of different severities. Br J Ophthalmol. 2020 Oct;104(10):1472-1476.

4.Tang SM, Lau T, Rong SS, Yazar S, Chen LJ, Mackey DA, Lucas RM, Pang CP, Yam JC. Vitamin D and its pathway genes in myopia: systematic review and meta- analysis. Br J Ophthalmol. 2019 Jan;103(1):8-17.

5.Tang SM, Ma L, Lu SY, Wang YM, Kam KW, Tam POS, Young AL, Pang CP, Yam JCS, Chen LJ. Association of the PAX6 gene with extreme myopia rather than lower grade myopias. Br J Ophthalmol. 2018 Apr;102(4):570-574.

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Inherited retinal dystrophies

1.Xiao X, Cao Y, Zhang Z, Xu Y, Zheng Y, Chen LJ, Pang CP, Chen H. Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6342-6350.

2.Ng DS, Lai TY, Ng TK, Pang CP. Genetics of Bietti Crystalline Dystrophy. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):245-52.

3.Jin X, Qu LH, Hou BK, Xu HW, Meng XH, Pang CP, Yin ZQ. Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family. Biosci Rep. 2016 Jan 22;36(1):e00289.

4.Liu Y, Chen X, Xu Q, Gao X, Tam PO, Zhao K, Zhang X, Chen LJ, Jia W, Zhao Q, Vollrath D, Pang CP, Zhao C. SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Sci Rep. 2015 Oct 13;5:14867.

5.Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Genet Med. 2015 Apr;17(4):271-8.

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Genetics Publications

Glaucoma

Glaucoma

  1. Lu SY, Rong SS, Wu Z, Huang C, Matsushita K, Ng TK, Leung CKS, Kawashima R, Usui S, Tam POS, Tsujikawa M, Young AL, Zhang M, Wiggs JL, Nishida K, Tham CC, Pang CP, Chen LJ. Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese. Clin Exp Ophthalmol. 2020 Jul;48(5):658-665.
  2. He JN, Lu S, Chen LJ, Tam POS, Zhang BN, Leung CKS, Pang CP, Tham CCY, Chu WK. Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients. Dis Markers. 2019 May 6;2019:5820537.
  3. Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, SunX, Zhu W, Li DY, Pasutto F, Yang Z. Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genet Med. 2019 Oct;21(10):2345-2354.
  4. Rong SS, Lu SY, Matsushita K, Huang C, Leung CKS, Kawashima R, Usui S, Tam POS, Young AL, Tsujikawa M, Zhang M, Nishida K, Wiggs JL, Tham CC, Pang CP, Chen LJ. Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese. Exp Eye Res. 2019 Mar;180:129-136.
  5. Huang C, Xie L, Wu Z, Cao Y, Zheng Y, Pang CP, Zhang M. Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing. Sci Rep. 2018 Mar 14;8(1):4498.

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  1. Tang FY, Ma L, Tam POS, Pang CP, Tham CC, Chen LJ. Genetic Association of thePARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4384–4389. Erratum in: Invest Ophthalmol Vis Sci. 2017 Sep1;58(11):4799.
  2. Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, Duvesh R, Chen LJ, Li Z, Nongpiur ME, Perera SA, Qiao C, Wong HT, Sakai H, Barbosa de Melo M, Lee MC, Chan AS, Azhany Y, Dao TL, Ikeda Y, Perez-Grossmann RA, Zarnowski T, Day AC, Jonas JB, Tam PO, Tran TA, Ayub H, Akhtar F, Micheal S, Chew PT, Aljasim LA, Dada T, Luu TT, Awadalla MS, Kitnarong N, Wanichwecharungruang B, Aung YY, Mohamed-Noor J, Vijayan S, Sarangapani S, Husain R, Jap A, Baskaran M, Goh D, Su DH, Wang H, Yong VK, Yip LW, Trinh TB, Makornwattana M, Nguyen TT, Leuenberger EU, Park KH, Wiyogo WA, Kumar RS, Tello C, Kurimoto Y, Thapa SS, Pathanapitoon K, Salmon JF, Sohn YH, Fea A, Ozaki M, Lai JS, Tantisevi V, Khaing CC, Mizoguchi T, Nakano S, Kim CY, Tang G, Fan S, Wu R, Meng H, Nguyen TT, Tran TD, Ueno M, Martinez JM, Ramli N, Aung YM, Reyes RD, Vernon SA, Fang SK, Xie Z, Chen XY, Foo JN, Sim KS, Wong TT, Quek DT, Venkatesh R, Kavitha S, Krishnadas SR, Soumittra N, Shantha B, Lim BA, Ogle J, de Vasconcellos JP, Costa VP, Abe RY, de Souza BB, Sng CC, Aquino MC, Kosior-Jarecka E, Fong GB, Tamanaja VC, Fujita R, Jiang Y, Waseem N, Low S, Pham HN, Al-Shahwan S, Craven ER, Khan MI, Dada R, Mohanty K, Faiq MA, Hewitt AW, Burdon KP, Gan EH, Prutthipongsit A, Patthanathamrongkasem T, Catacutan MA, Felarca IR, Liao CS, Rusmayani E, Istiantoro VW, Consolandi G, Pignata G, Lavia C, Rojanapongpun P, Mangkornkanokpong L, Chansangpetch S, Chan JC, Choy BN, Shum JW, Than HM, Oo KT, Han AT, Yong VH, Ng XY, Goh SR, Chong YF, Hibberd ML, Seielstad M, Png E, Dunstan SJ, Chau NV, Bei J, Zeng YX, Karkey A, Basnyat B, Pasutto F, Paoli D, Frezzotti P, Wang JJ, Mitchell P, Fingert JH, Allingham RR, Hauser MA, Lim ST, Chew SH, Ebstein RP, Sakuntabhai A, Park KH, Ahn J, Boland G, Snippe H, Stead R, Quino R, Zaw SN, Lukasik U, Shetty R, Zahari M, Bae HW, Oo NL, Kubota T, Manassakorn A, Ho WL, Dallorto L, Hwang YH, Kiire CA, Kuroda M, Djamal ZE, Peregrino JI, Ghosh A, Jeoung JW, Hoan TS, Srisamran N, Sandragasu T, Set SH, Doan VH, Bhattacharya SS, Ho CL, Tan DT, Sihota R, Loon SC, Mori K, Kinoshita S, Hollander AI, Qamar R, Wang YX, Teo YY, Tai ES, Hartleben-Matkin C, Lozano-Giral D, Saw SM, Cheng CY, Zenteno JC, Pang CP, Bui HT, Hee O, Craig JE, Edward DP, Yonahara M, Neto JM, Guevara-Fujita ML, Xu L, Ritch R, Liza-Sharmini AT, Wong TY, Al-Obeidan S, Do NH, Sundaresan P, Tham CC, Foster PJ, Vijaya L, Tashiro K, Vithana EN, Wang N, Aung T. Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2016 May;48(5):556-62.
  3. Rong SS, Tang FY, Chu WK, Ma L, Yam JC, Tang SM, Li J, Gu H, Young AL, Tham CC, Pang CP, Chen LJ. Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-analysis. Ophthalmology. 2016 Jun;123(6):1211-21.
  4. Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon DN, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, Richards JE, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul1;24(13):3880-92.
  5. Chen Y, Lin Y, Vithana EN, Jia L, Zuo X, Wong TY, Chen LJ, Zhu X, Tam PO, Gong B, Qian S, Li Z, Liu X, Mani B, Luo Q, Guzman C, Leung CK, Li X, Cao W, Yang Q, Tham CC, Cheng Y, Zhang X, Wang N, Aung T, Khor CC, Pang CP, Sun X, YangZ. Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. Nat Genet. 2014 Oct;46(10):1115-9.
  6. Nongpiur ME, Khor CC, Jia H, Cornes BK, Chen LJ, Qiao C, Nair KS, Cheng CY, Xu L, George R, Tan D, Abu-Amero K, Perera SA, Ozaki M, Mizoguchi T, Kurimoto Y, Low S, Tajudin LS, Ho CL, Tham CC, Soto I, Chew PT, Wong HT, Shantha B, Kuroda M, Osman EA, Tang G, Fan S, Meng H, Wang H, Feng B, Yong VH, Ting SM, Li Y, Wang YX, Li Z, Lavanya R, Wu RY, Zheng YF, Su DH, Loon SC, Yong VK, Allingham RR, Hauser MA, Soumittra N, Ramprasad VL, Waseem N, Yaakub A, Chia KS, Kumaramanickavel G, Wong TT, How AC, Chau TN, Simmons CP, Bei JX, Zeng YX, Bhattacharya SS, Zhang M, Tan DT, Teo YY, Al-Obeidan SA, Hon DN, Tai ES, Saw SM, Foster PJ, Vijaya L, Jonas JB, Wong TY, John SW, Pang CP, Vithana EN, Wang N, Aung T. PLoS Genet. 2014 Mar 6;10(3):e1004089.
  7. Chen LJ, Ng TK, Fan AH, Leung DY, Zhang M, Wang N, Zheng Y, Liang XY, Chiang SW, Tam PO, Pang CP. Evaluation of NTF4 as a causative gene for primary open-angle glaucoma. Mol Vis. 2012;18:1763-72.
  8. Chen LJ, Tam PO, Leung DY, Fan AH, Zhang M, Tham CC, Chiang SW, Fan BJ, Wang N, Pang CP. SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma. Mol Vis. 2012;18:1629-39.
  9. Chen JH, Wang D, Huang C, Zheng Y, Chen H, Pang CP, Zhang M. Interactive effects of ATOH7 and RFTN1 in association with adult-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2012 Feb 16;53(2):779-85.
  10. Chen LJ, Tam PO, Tham CC, Liang XY, Chiang SW, Canlas O, Ritch R, Rhee DJ, Pang CP. Evaluation of SPARC as a candidate gene of juvenile-onset primary open-angle glaucoma by mutation and copy number analyses. Mol Vis. 2010 Oct8;16:2016-25.
  11. Lai TY, Chen LJ, Yam GH, Tham CC, Pang CP. Development of novel drugs for ocular diseases: possibilities for individualized therapy. Per Med. 2010Jul;7(4):371-386.
  12. Fan BJ, Liu K, Wang DY, Tham CC, Tam PO, Lam DS, Pang CP. Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4110-6.
  13. Chen H, Chen LJ, Zhang M, Gong W, Tam PO, Lam DS, Pang CP. Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. Mol Vis. 2010 Feb 6;16:167-77.
  14. Jia LY, Tam PO, Chiang SW, Ding N, Chen LJ, Yam GH, Pang CP, Wang NL. Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese. Mol Vis.2009;15:89-98.
  15. Fan BJ, Wang DY, Cheng CY, Ko WC, Lam SC, Pang CP. Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma. Mol Vis. 2009;15:646-53. 
  16. Gong WF, Chiang SW, Chen LJ, Tam PO, Jia LY, Leung DY, Geng YQ, Tham CC, LamDS, Ritch R, Wang N, Pang CP. Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. Mol Vis. 2008;14:2381-9.
  17. Fan BJ, Wang DY, Tham CC, Lam DS, Pang CP. Gene expression profiles of human trabecular meshwork cells induced by triamcinolone and dexamethasone. Invest Ophthalmol Vis Sci. 2008 May;49(5):1886-97. PMID:18436822
  18. Fan BJ, Ko WC, Wang DY, Canlas O, Ritch R, Lam DS, Pang CP. Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene. Mol Vis. 2007 May 23;13:779-84.
  19. Wang DY, Fan BJ, Chua JK, Tam PO, Leung CK, Lam DS, Pang CP. A genome-wide scan maps a novel juvenile-onset primary open-angle glaucoma locus to 15q. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5315-21. 17122119
  20. Lam CY, Fan BJ, Wang DY, Tam PO, Yung Tham CC, Leung DY, Ping Fan DS, Chiu Lam DS, Pang CP. Association of apolipoprotein E polymorphisms with normal tension glaucoma in a Chinese population. J Glaucoma. 2006 Jun;15(3):218-22. 
  21. Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, Pang CP. Molecular diagnostics of genetic eye diseases. Clin Biochem. 2006 Mar;39(3):231-9.
  22. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006 Mar;39(3):249-58.
  23. Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO, Lam DS, Raymond V, Ritch R. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q. Mol Vis. 2006 Feb 14;12:85-92.
  24. Fan BJ, Wang DY, Fan DS, Tam PO, Lam DS, Tham CC, Lam CY, Lau TC, Pang CP. SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients. Mol Vis. 2005 Aug 29;11:625-31. PMID:16148883
  25. Wang DY, Fan BJ, Canlas O, Tam PO, Ritch R, Lam DS, Fan DS, Pang CP. Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma. Mol Vis. 2004 Nov 9;10:851-6.
  26. Fan BJ, Leung YF, Pang CP, Fan DS, Wang DY, Tong WC, Tam PO, Chua JK, Lau TC, Lam DS. Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma. J Glaucoma. 2004 Oct;13(5):377-84.
  27. Fan BJ, Leung YF, Wang N, Lam SC, Liu Y, Tam OS, Pang CP. Genetic and environmental risk factors for primary open-angle glaucoma. Chin Med J (Engl).2004 May;117(5):706-10.

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Macular Diseases

Macular Diseases

1.Chen ZJ, Ma L, Brelen ME, Chen H, Tsujikawa M, Lai TY, Ho M, Sayanagi K, Hara C, Hashida N, Tam PO, Young AL, Nishida K, Tham CC, Pang CP, Chen LJ. Identification of TIE2 as a susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Br J Ophthalmol. 2020 Mar 9:bjophthalmol-2019-315746.

2.Liu K, Ma L, Lai TYY, Brelen ME, Tam POS, Tham CC, Pang CP, Chen LJ. Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Eye Vis (Lond). 2019 Nov 7;6:34.

3.Ma L, Ng TK, Chen H, Brelén ME, Lai TYY, Ho M, Tam POS, Young AL, Chen W, Tham CC, Pang CP, Chen LJ. Identification and characterization of a novel promoter variant in placental growth factor for neovascular age-related macular degeneration. Exp Eye Res. 2019 Oct;187:107748.

4.Huang L, Zhang X, Tam POS, Chen H, Hao F, Pang CP, Wen F, Yang Z. Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population. J Hum Genet. 2018 Oct;63(10):1055-1070.

5.Fan Q, Maranville JC, Fritsche L, Sim X, Cheung CMG, Chen LJ, Gorski M, Yamashiro K, Ahn J, Laude A, Dorajoo R, Lim TH, Teo YY, Blaustein RO, Yoshimura N, Park KH, Pang CP, Tai ES, Khor CC, Wong TY, Runz H, Cheng CY. HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization. Int J Epidemiol. 2017 Dec 1;46(6):1891-1902.

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  1. Fan Q, Cheung CMG, Chen LJ, Yamashiro K, Ahn J, Laude A, Mathur R, Mun CC, Yeo IY, Lim TH, Teo YY, Khor CC, Park KH, Yoshimura N, Pang CP, Wong TY, Cheng CY. Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians. J Hum Genet. 2017 Dec;62(12):1049-1055. 
  2. Zhang XY, Ng TK, Brelén ME, Chan KP, Wu D, Yung JSY, Cao D, Wang Y, Zhang S, Chan SO, Pang CP. Disruption of retinal pigment epithelial cell properties under the exposure of cotinine. Sci Rep. 2017 Jun 9;7(1):3139. 
  3. Ma L, Brelen ME, Tsujikawa M, Chen H, Chu WK, Lai TY, Ng DS, Sayanagi K, Hara C, Hashida N, Chan VC, Tam PO, Young AL, Chen W, Nishida K, Pang CP, Chen LJ. Identification of ANGPT2 as a New Gene for Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in the Chinese and Japanese Populations. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1076-1083. 
  4. Zhang XY, Ng TK, Brelén ME, Wu D, Wang JX, Chan KP, Yung JSY, Cao D, Wang Y, Zhang S, Chan SO, Pang CP. Continuous exposure to non-lethal doses of sodium iodate induces retinal pigment epithelial cell dysfunction. Sci Rep. 2016 Nov 16;6:37279. 
  5. Ng TK, Liang XY, Lu F, Liu DT, Yam GH, Ma L, Tam PO, Chen H, Cen LP, Chen LJ, Yang Z, Pang CP. Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations. Lab Invest. 2017 Jan;97(1):43-52. 
  6. Ma L, Liu K, Tsujikawa M, Chen H, Brelen ME, Chan VC, Lai TY, Sayanagi K, Hara C, Hashida N, Tam PO, Young AL, Chen W, Nishida K, Pang CP, Chen LJ. Association of ABCG1 With Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Chinese and Japanese. Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5758-5763. 
  7. Ng TK, Liang XY, Lai TY, Ma L, Tam PO, Wang JX, Chen LJ, Chen H, Pang CP. HTRA1 promoter variant differentiates polypoidal choroidal vasculopathy from exudative age-related macular degeneration. Sci Rep. 2016 Jun 24;6:28639. 
  8. Huang L, Zhang H, Cheng CY, Wen F, Tam PO, Zhao P, Chen H, Li Z, Chen L, Tai Z, Yamashiro K, Deng S, Zhu X, Chen W, Cai L, Lu F, Li Y, Cheung CM, Shi Y, Miyake M, Lin Y, Gong B, Liu X, Sim KS, Yang J, Mori K, Zhang X, Cackett PD, Tsujikawa M, Nishida K, Hao F, Ma S, Lin H, Cheng J, Fei P, Lai TY, Tang S, Laude A, Inoue S, Yeo IY, Sakurada Y, Zhou Y, Iijima H, Honda S, Lei C, Zhang L, Zheng H, Jiang D, Zhu X, Wong TY, Khor CC, Pang CP, Yoshimura N, Yang Z. A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy. Nat Genet. 2016 Jun;48(6):640-7. 
  9. Chen LJ, Ma L, Chu WK, Lai TY, Chen H, Brelén ME, Rong SS, Young AL, Tam PO, Zhang M, Pang CP. Identification of PGF as a New Gene for Neovascular age-Related Macular Degeneration in a Chinese Population. Invest Ophthalmol Vis Sci. 2016 Apr;57(4):1714-20. 
  10. Ma L, Tang FY, Chu WK, Young AL, Brelen ME, Pang CP, Chen LJ. Association of toll-like receptor 3 polymorphism rs3775291 with age-related macular degeneration: a systematic review and meta-analysis. Sci Rep. 2016 Jan 22;6:19718. 
  11. Ma L, Li Z, Liu K, Rong SS, Brelen ME, Young AL, Kumaramanickavel G, Pang CP, Chen H, Chen LJ. Association of Genetic Variants with Polypoidal Choroidal Vasculopathy: A Systematic Review and Updated Meta-analysis. Ophthalmology. 2015 Sep;122(9):1854-65. 
  12. Huang LZ, Li YJ, Xie XF, Zhang JJ, Cheng CY, Yamashiro K, Chen LJ, Ma XY, Cheung CM, Wang YS, Zhang CF, Bai YJ, Hou J, Chen XL, Qi Y, Li SS, Sun YY, Mei JP, Cheng Y, Yu WZ, Hu XB, Zhuang FF, Fan L, Lu Y, Sun XH, Zhu XJ, Shen DF, Chan CC, Zhao MW, Yoshimura N, Pang CP, Wong TY, Khor CC, Zhang K, Zhou P, Li XX. Whole-exome sequencing implicates UBE3D in age-related macular degeneration in East Asian populations. Nat Commun. 2015 Apr 15;6:6687. 
  13. Ma L, Tang SM, Rong SS, Chen H, Young AL, Kumaramanickavel G, Pang CP, Chen LJ. Association of PEDF polymorphisms with age-related macular degeneration and polypoidal choroidal vasculopathy: a systematic review and meta-analysis. Sci Rep. 2015 Mar 30;5:9497. 
  14. Cheng CY, Yamashiro K, Jia Chen L, Ahn J, Huang L, Huang L, Cheung CMG, Miyake M, Cackett PD, Yeo IY, Laude A, Mathur R, Pang J, Sim KS, Koh AH, Chen P, Lee SY, Wong D, Chan CM, Loh BK, Sun Y, Davila S, Nakata I, Nakanishi H, Akagi-Kurashige Y, Gotoh N, Tsujikawa A, Matsuda F, Mori K, Yoneya S, Sakurada Y, Iijima H, Iida T, Honda S, Lai TYY, Tam POS, Chen H, Tang S, Ding X, Wen F, Lu F, Zhang X, Shi Y, Zhao P, Zhao B, Sang J, Gong B, Dorajoo R, Yuan JM, Koh WP, van Dam RM, Friedlander Y, Lin Y, Hibberd ML, Foo JN, Wang N, Wong CH, Tan GS, Park SJ, Bhargava M, Gopal L, Naing T, Liao J, Ong PG, Mitchell P, Zhou P, Xie X, Liang J, Mei J, Jin X, Saw SM, Ozaki M, Mizoguchi T, Kurimoto Y, Woo SJ, Chung H, Yu HG, Shin JY, Park DH, Kim IT, Chang W, Sagong M, Lee SJ, Kim HW, Lee JE, Li Y, Liu J, Teo YY, Heng CK, Lim TH, Yang SK, Song K, Vithana EN, Aung T, Bei JX, Zeng YX, Tai ES, Li XX, Yang Z, Park KH, Pang CP, Yoshimura N, Wong TY, Khor CC. Corrigendum: New loci and coding variants confer risk for age-related macular degeneration in East Asians. Nat Commun. 2015 Mar 30;6:6817. Erratum for: Nat Commun. 2015;6:6063. 
  15. Liu K, Lai TY, Ma L, Lai FH, Young AL, Brelen ME, Tam PO, Pang CP, Chen LJ. Ethnic differences in the association of SERPING1 with age-related macular degeneration and polypoidal choroidal vasculopathy. Sci Rep. 2015 Mar 24;5:9424. 
  16. Liu K, Lai TY, Chiang SW, Chan VC, Young AL, Tam PO, Pang CP, Chen LJ. Gender specific association of a complement component 3 polymorphism with polypoidal choroidal vasculopathy. Sci Rep. 2014 Nov 12;4:7018. 
  17. Chen X, Rong SS, Xu Q, Tang FY, Liu Y, Gu H, Tam PO, Chen LJ, Brelén ME, Pang CP, Zhao C. Diabetes mellitus and risk of age-related macular degeneration: a systematic review and meta-analysis. PLoS One. 2014 Sep 19;9(9):e108196. 
  18. Liu K, Chen LJ, Lai TY, Tam PO, Ho M, Chiang SW, Liu DT, Young AL, Yang Z, Pang CP. Genes in the high-density lipoprotein metabolic pathway in age-related macular degeneration and polypoidal choroidal vasculopathy. Ophthalmology. 2014 Apr;121(4):911-6. 
  19. Chen JH, Yang Y, Zheng Y, Qiu M, Xie M, Lin W, Zhang M, Pang CP, Chen H. No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort. Mol Vis. 2013 May 1;19:944-54. 
  20. Liu K, Chen LJ, Tam PO, Shi Y, Lai TY, Liu DT, Chiang SW, Yang M, Yang Z, Pang CP. Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy. Ophthalmology. 2013 Apr;120(4):837-43. 
  21. Nakata I, Yamashiro K, Akagi-Kurashige Y, Miyake M, Kumagai K, Tsujikawa A, Liu K, Chen LJ, Liu DT, Lai TY, Sakurada Y, Yoneyama S, Cheng CY, Cackett P, Yeo IY, Tay WT, Cornes BK, Vithana EN, Aung T, Matsuo K, Matsuda F, Wong TY, Iijima H, Pang CP, Yoshimura N. Association of genetic variants on 8p21 and 4q12 with age-related macular degeneration in Asian populations. Invest Ophthalmol Vis Sci. 2012 Sep 25;53(10):6576-81. 
  22. Chen H, Liu K, Chen LJ, Hou P, Chen W, Pang CP. Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis. Mol Vis. 2012;18:816-29. 
  23. Liang XY, Lai TY, Liu DT, Fan AH, Chen LJ, Tam PO, Chiang SW, Ng TK, Lam DS, Pang CP. Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus. Invest Ophthalmol Vis Sci. 2012 May 31;53(6):3175-82. 
  24. Ng TK, Liang XY, Pang CP. HTRA1 in Age-Related Macular Degeneration. Asia Pac J Ophthalmol (Phila). 2012 Jan-Feb;1(1):51-63. 
  25. Ng TK, Yam GH, Chen WQ, Lee VY, Chen H, Chen LJ, Choy KW, Yang Z, Pang CP. Interactive expressions of HtrA1 and VEGF in human vitreous humors and fetal RPE cells. Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3706-12. 
  26. Lai TY, Chen LJ, Yam GH, Tham CC, Pang CP. Development of novel drugs for ocular diseases: possibilities for individualized therapy. Per Med. 2010 Jul;7(4):371-386. 
  27. Lai TY, Liu DT, Chan KP, Luk FO, Pang CP, Lam DS. Visual outcomes and growth factor changes of two dosages of intravitreal bevacizumab for neovascular age-related macular degeneration: a randomized, controlled trial. Retina. 2009 Oct;29(9):1218-26. 
  28. Ng TK, Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Hu YJ, Chong KK, Lau CS, Chiang SW, Lam DS, Pang CP. Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese. Invest Ophthalmol Vis Sci. 2008 Aug;49(8):3312-7. 
  29. Tam PO, Ng TK, Liu DT, Chan WM, Chiang SW, Chen LJ, DeWan A, Hoh J, Lam DS, Pang CP. HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2357-65. 
  30. Chen LJ, Liu DT, Tam PO, Chan WM, Liu K, Chong KK, Lam DS, Pang CP. Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis. 2006 Dec 5;12:1536-42. 
  31. Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006 Nov 10;314(5801):989-92. 
  32. Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, Pang CP. Molecular diagnostics of genetic eye diseases. Clin Biochem. 2006 Mar;39(3):231-9. 

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Myopia and Refractive Errors

Myopia and Refractive Errors

1.Li FF, Lu SY, Tang SM, Kam KW, Pancy O S T, Yip WWK, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ. Genetic associations of myopia severities and endophenotypes in children. Br J Ophthalmol. 2020 Aug 14:bjophthalmol-2020-316728.

2.Lu SY, Tang SM, Li FF, Kam KW, Tam POS, Yip WWK, Young AL, Tham CC, Pang CP, Yam JC, Chen LJ. Association of WNT7B and RSPO1 with Axial Length in School Children. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):11.

3.Tang SM, Li FF, Lu SY, Kam KW, Tam POS, Tham CC, Pang CP, Yam JCS, Chen LJ. Association of the ZC3H11B, ZFHX1B  and SNTB1  genes with myopia of different severities. Br J Ophthalmol. 2020 Oct;104(10):1472-1476.

4.Tang SM, Lau T, Rong SS, Yazar S, Chen LJ, Mackey DA, Lucas RM, Pang CP, Yam JC. Vitamin D and its pathway genes in myopia: systematic review and meta- analysis. Br J Ophthalmol. 2019 Jan;103(1):8-17.

5.Tang SM, Ma L, Lu SY, Wang YM, Kam KW, Tam POS, Young AL, Pang CP, Yam JCS, Chen LJ. Association of the PAX6 gene with extreme myopia rather than lower grade myopias. Br J Ophthalmol. 2018 Apr;102(4):570-574.

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  1. Rong SS, Chen LJ, Pang CP. Myopia Genetics-The Asia-Pacific Perspective. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):236-44.
  2. Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia, Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik JF, Kemp JP, Timpson NJ, Smith GD, Craig JE, Burdon KP, Fogarty RD, Iyengar SK, Chew E, Janmahasatian S, Martin NG, MacGregor S, Xu L, Schache M, Nangia V, Panda-Jonas S, Wright AF, Fondran JR, Lass JH, Feng S, Zhao JH, Khaw KT, Wareham NJ, Rantanen T, Kaprio J, Pang CP, Chen LJ, Tam PO, Jhanji V, Young AL, Döring A, Raffel LJ, Cotch MF, Li X, Yip SP, Yap MK, Biino G, Vaccargiu S, Fossarello M, Fleck B, Yazar S, Tideman JW, Tedja M, Deangelis MM, Morrison M, Farrer L, Zhou X, Chen W, Mizuki N, Meguro A, Mäkelä KM. Meta- analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error. Nat Commun. 2016 Mar 29;7:11008.
  3. Tang SM, Rong SS, Young AL, Tam PO, Pang CP, Chen LJ. PAX6 gene associated with high myopia: a meta-analysis. Optom Vis Sci. 2014 Apr;91(4):419-29.
  4. Khor CC, Miyake M, Chen LJ, Shi Y, Barathi VA, Qiao F, Nakata I, Yamashiro K, Zhou X, Tam PO, Cheng CY, Tai ES, Vithana EN, Aung T, Teo YY, Wong TY, Moriyama M, Ohno-Matsui K, Mochizuki M, Matsuda F; Nagahama Study Group, Yong RY, Yap EP, Yang Z, Pang CP, Saw SM, Yoshimura N. Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia. Hum Mol Genet. 2013 Dec 20;22(25):5288-94.
  5. Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM), Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2), Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK; Fuchs’ Genetics Multi-Center Study Group, Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ. 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.
  6. Shi Y, Gong B, Chen L, Zuo X, Liu X, Tam PO, Zhou X, Zhao P, Lu F, Qu J, Sun L, Zhao F, Chen H, Zhang Y, Zhang D, Lin Y, Lin H, Ma S, Cheng J, Yang J, Huang L, Zhang M, Zhang X, Pang CP, Yang Z. 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.
  7. Chen JH, Chen H, Huang S, Lin J, Zheng Y, Xie M, Lin W, Pang CP, Zhang M. Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye biometric parameters. Mol Vis. 2012;18:765-78.
  8. Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam POS, Sun L, Zuo X, Zhou X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F, Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Chen Y, Yang C, Lam DSC, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y, Xue A, Fan Y, Li D, Pang CP, Zhang X, Yang Z. Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. Am J Hum Genet. 2011 Jun 10;88(6):805-813.
  9. Ng TK, Lam CY, Lam DS, Chiang SW, Tam PO, Wang DY, Fan BJ, Yam GH, Fan DS, Pang CP. AC and AG dinucleotide repeats in the PAX6 P1 promoter are associated with high myopia. Mol Vis. 2009 Nov 5;15:2239-48.
  10. Lam CY, Tam PO, Fan DS, Fan BJ, Wang DY, Lee CW, Pang CP, Lam DS. A genome- wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3768-78.

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Inherited Retinal Dystrophies

Inherited retinal dystrophies

1.Xiao X, Cao Y, Zhang Z, Xu Y, Zheng Y, Chen LJ, Pang CP, Chen H. Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6342-6350.

2.Ng DS, Lai TY, Ng TK, Pang CP. Genetics of Bietti Crystalline Dystrophy. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):245-52.

3.Jin X, Qu LH, Hou BK, Xu HW, Meng XH, Pang CP, Yin ZQ. Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family. Biosci Rep. 2016 Jan 22;36(1):e00289.

4.Liu Y, Chen X, Xu Q, Gao X, Tam PO, Zhao K, Zhang X, Chen LJ, Jia W, Zhao Q, Vollrath D, Pang CP, Zhao C. SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Sci Rep. 2015 Oct 13;5:14867.

5.Huang XF, Huang F, Wu KC, Wu J, Chen J, Pang CP, Lu F, Qu J, Jin ZB. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Genet Med. 2015 Apr;17(4):271-8.

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  1. Wu J, Chen L, Tam OS, Huang XF, Pang CP, Jin ZB. Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. Biomed Res Int. 2014;2014:302487.
  2. Xing DJ, Zhang HX, Huang N, Wu KC, Huang XF, Huang F, Tong Y, Pang CP, Qu J, Jin ZB. Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high- throughput targeted exome sequencing. PLoS One. 2014 Mar 7;9(3):e90599.
  3. Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2014 Jun 1;23(11):2926-39.
  4. Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ. Contribution of SNRNP200 sequence variations to retinitis pigmentosa. Eye (Lond). 2013 Oct;27(10):1204-13.
  5. Huang XF, Xiang P, Chen J, Xing DJ, Huang N, Min Q, Gu F, Tong Y, Pang CP, Qu J, Jin ZB. Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. PLoS One. 2013 May 30;8(5):e63832.
  6. Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP. Differential pattern of RP1 mutations in retinitis pigmentosa. Mol Vis. 2010 Jul 15;16:1353-60.
  7. Abd El-Aziz MM, O’Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4266-72.
  8. Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2236-42.
  9. Yang Y, Zhang X, Chen LJ, Chiang SW, Tam PO, Lai TY, Chan CK, Wang N, Lam DS, Pang CP. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2229-35.
  10. Zhao C, Bellur DL, Lu S, Zhao F, Grassi MA, Bowne SJ, Sullivan LS, Daiger SP, Chen LJ, Pang CP, Zhao K, Staley JP, Larsson C. Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet. 2009 Nov;85(5):617-27.
  11. Fan BJ, Tam PO, Choy KW, Wang DY, Lam DS, Pang CP. Molecular diagnostics of genetic eye diseases. Clin Biochem. 2006 Mar;39(3):231-9.
  12. Wang DY, Chan WM, Tam PO, Chiang SW, Lam DS, Chong KK, Pang CP. Genetic markers for retinitis pigmentosa. Hong Kong Med J. 2005 Aug;11(4):281-8.
  13. Wang DY, Chan WM, Tam PO, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP. Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta. 2005 Jan;351(1-2):5-16.

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