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Assoc Prof Vithana Eranga

BSc, PhD

Academic Appointments

Associate Professor SingHealth Duke-NUS Ophthalmology ＆ Visual Sciences Academic Clinical Programme

Profile

Associate Professor Eranga Vithana is a Senior Principal Research Scientist and heads the Ocular Genetics Research group at Singapore Eye Research Institute (SERI). She holds appointments with Duke-NUS Medical School and National University of Singapore (NUS). She has a PhD in Molecular Genetics from University College London, UK and has been working on ophthalmic genetics for more than 20 years. Her current research is focused on understanding the genetic basis of both rare and common eye diseases with Mendelian and/or complex genetic etiology. She has studied the genetic basis and biochemical mechanisms of corneal dystrophies, inherited photoreceptor degenerations (IPDs), all forms of glaucoma (POAG, PACG, NTG, congenital glaucoma), as well as quantitative traits of ocular diseases. Associate Professor Vithana’s research has led to the discovery of genes causative of retinitis pigmentosa, corneal endothelial dystrophies, glaucoma and ocular quantitative traits.

Associate Professor Vithana has published more than 110+ peer-reviewed papers that include highly cited articles in Nature Genetics, Molecular Cell, American Journal of Human Genetics, Ophthalmology and Human Molecular Genetics and has an H index of 52. Grant funding awarded to her as either the principal investigator (PI) or co-PI total over S$10 million to date. She has presented her scientific findings in numerous conference proceedings and has been an invited speaker at numerous Ophthalmic and Genetic conferences. Associate Professor Vithana served as chair in Genetics section of ARVO Annual Meeting Program Committee (AMPC), and participate in scientific program planning committees of World Glaucoma Congress (WGC) and Asia-Pacific Academy of Ophthalmology (APAO).

Education

PhD (London) (1998)
BSc (1994)

Professional Appointments and Committee Memberships

Associate Professor, Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore (2016 - present)
Associate Professor, Department of Neuroscience, Duke-NUS Medical School (2016 - present)
Member, Association for Research in Vision and Ophthalmology (ARVO)
Member, Genetics Cross Section, Association for Research in Vision and Ophthalmology (ARVO)
Committee Member (Epidemiology and Genetics), World Glaucoma Congress (WGC)

Awards

Best Oral Paper (Scientist) Award, 15th SGH Annual Scientific Meeting, Singapore (2013 and 2015)
Outstanding Publication Award, SingHealth (2006)

Research Interests

Understanding the genetic basis of both rare and common eye diseases with Mendelian and/or complex genetic etiology
Understanding the genetic basis and biochemical mechanisms of corneal dystrophies, inherited photoreceptor degenerations (IPDs), all forms of glaucoma (POAG, PACG, NTG, congenital glaucoma), as well as quantitative traits of ocular diseases

Publications

Liu C, Nongpiur ME, Cheng CY, Khor CC, Yu M, Husain R, Ho CL, Wong TT, Boey PY, Perera S, Wong TY, Vithana EN, Aung T. Evaluation of primary angle closure glaucoma susceptibility loci for estimating angle closure disease severity. Ophthalmology. 2020;S0161-6420(20)30691-6.
Nongpiur ME, Cheng CY, Duvesh R, Vijayan S, Baskaran M, Khor CC, Allen J, Kavitha S, Venkatesh R, Goh D, Husain R, Boey PY, Quek D, Ho CL, Wong TT, Perera S, Wong TY, Krishnadas SR, Sundaresan P, Aung T, Vithana EN. Evaluation of primary angle closure glaucoma susceptibility loci in subjects with early stages of angle closure disease. Ophthalmology. 2018: S0161-6420(17)31588-9.
Lee MC, Shei W, Chan AS, Chua BT, Goh S, Chong YF, Hilmy MH, Nongpiur ME, Baskaran M, Khor CC, Aung T, Hunziker W, and Vithana EN. Primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 encodes a novel Rac1/Cdc42 GAP that modulates cell migration and blood-aqueous barrier function. Hum Mol Genet. 2017 Oct 15;26(20):4011-4027.
Aung T, Ozaki M, Lee MC …., Vithana EN*, Micheal M*, Topouzis F*, Craig J*, Dubina M*, Sundaresan P*, Stefansson K*, Wiggs JL*, Pasutto F*, Khor CC; Nat Genet. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. 2017 Jul;49(7):993-1004.
Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero etal .....Wong TY, Al-Obeidan S, Do NH, Sundaresan P, Tham CC, Foster PJ, Vijaya L, Tashiro K, Vithana EN*, Wang N*, Aung T*. Nat Genet. 2016 May;48(5):556-62.
Trikha S, Saffari E, Nongpiur M, Baskaran M, Ho H, Li Z, Tan P-Y, Khor CC, Perera SA, Cheng CY, Aung T*, Vithana EN*. Genetic variant in TGFBR3-CDC7 is associated with visual field progression in primary open angle glaucoma patients from Singapore. Ophthalmology. 2015 Dec;122(12):2416-22.
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 Jul 1;24(13):3880-92.
Chen Y*, Lin Y*, Vithana EN*, Jia L*, Zuo X, Chen L, Zhu X, Tam P, Gong B, Qian S, Li Z, Liu X, Mani B, Zhu X, Guzman C, Leung CKS, Li X, Tham CCY, Yang J, Zhang X, Wang N, Wong TY, Aung T, Khor CC, Pang CP#, Sun X#, Yang Z#; Nat Genetics. Common genetic variants near the ABCA1 gene and in the PMM2 gene are associated with primary open-angle glaucoma. Nat Genet. 2014 Oct;46(10):1115-9.
Lee MC*, Chan AS*, Goh SR, Hilmy MH, Nongpiur ME, Hong W, Aung T, Hunziker W, Vithana EN. Expression of the primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 in endothelial and epithelial cell junctions in the eye. Invest Ophthalmol Vis Sci. 2014 May 6;55(6):3833-41.
Nongpiur ME*, Khor CC* , Jia H*, Cornes BKC , Chen LJ, Qiao C, Nair S, Cheng CY, Xu L, George R, Do T, Abu-Amero K, Perera SA, Ozaki M, Mizoguchi M, Kurimoto Y, Low S, Tajudin L-S A, , Ho C-L, Tham CCY, Soto I, Chew PTK, Wong H-T, Shantha B, Osman EA, Tang G, Fan S, Meng H, Wang H, Feng B, Yong VHK, Ting SML, Li Y, Wang YX, Li Z, Lavanya R, Wu RY, Zheng YF, Su DH, Loon SC, Allingham R R, Hauser MA, Soumittra N, Ramprasad VL, Waseem N, Yaakub A, Chia K-S, Kumaramanickavel G, Wong TT, How AC, Chau TNB, Simmons CP, Bei J-X, Zeng Y-X, 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 SWM, Pang CP#, Vithana EN#, Wang N#, and Aung T #; Plos Genet. ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma. 2014 Mar 6; 10(3):e1004089.
Vithana EN*, Khor CC*, Qiao C*, Nongpiur ME, George R, Chen LJ, Do T, Abu-Amero K, Huang CK, Low S, Tajudin LS, Perera SA, Cheng CY, Xu L, Jia H, Ho CL, Sim KS, Wu RY, Tham CC, Chew PT, Su DH, Oen FT, Sarangapani S, Soumittra N, Osman EA, Wong HT, Tang G, Fan S, Meng H, Huong DT, Wang H, Feng B, Baskaran M, Shantha B, Ramprasad VL, Kumaramanickavel G, Iyengar SK, How AC, Lee KY, Sivakumaran TA, Yong VH, Ting SM, Li Y, Wang YX, Tay WT, Sim X, Lavanya R, Cornes BK, Zheng YF, Wong TT, Loon SC, Yong VK, Waseem N, Yaakub A, Chia KS, Allingham RR, Hauser MA, Lam DS, Hibberd ML, Bhattacharya SS, Zhang M, Teo YY, Tan DT, Jonas JB, Tai ES, Saw SM, Hon DN, Al-Obeidan SA, Liu J, Chau TN, Simmons CP, Bei JX, Zeng YX, Foster PJ, Vijaya L, Wong TY, Pang CP, Wang N, Aung T. Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma. Nat Genet. 2012 Oct; 44(10):1142-46.
Liu J, Seet L-F, Koh LW, Venkatraman A, Venkataraman D, Mohan R, Praetorius J, Bonanno JA, Aung T, Vithana EN. Depletion of SLC4A11 causes cell death by apoptosis in an immortalized human corneal endothelial cell line. Invest Ophthalmol Vis Sci. 2012 Jun 5;53(7):3270-9.
Vilas GL, Loganathan SK, Quon A, Sundaresan P, Vithana EN, Casey J. Hum Mutat.Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. 2012; 33(2):419-28.
Cornes BK, Khor CC, Nongpiur ME, Xu L, Tay W-T, Zheng Y, Lavanya R, Li Y, Wu R, Sim X, Wang Y-X, Chen P, Teo YY, Chia K-S, Seielstad M, Liu JJ, Hibberd ML, Cheng C-Y, Saw SM, Tai E-S, Jonas JB, Vithana EN#, Wong TY#, Aung T#. Identification of Four Novel Variants That Influence Central Corneal Thickness in Multi-Ethnic Asian Populations. Hum Mol Genet 2012; 21(2):437-45.
Vithana EN*, Morgan P*, Sundaresan P*, Ebenezer N, Tan DTH, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VHK, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF & Aung T. Mutations in Sodium-borate co-transporter SLC4A11 cause recessive Congenital Hereditary Endothelial Dystrophy, CHED2. Nat. Genet. 2006 38(7):755-7. (*Joint first authors).
Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001 8(2): 375-81.

Research Trials

Glaucoma Genetics and drug target discovery (2017- 2022)
Harnessing LOXL1 as a therapeutic candidate for exfoliation syndrome and exfoliation glaucoma (2018 - 2021)
Whole exome sequencing to identify actionable mutations causative of closed angle glaucoma (2016 – 2019)
Whole exome sequencing to identify actionable mutations causative of exfoliation syndrome and exfoliation glaucoma (2016 - 2019)
Characterization of PLEKHA7 role in Primary Angle Closure Glaucoma Pathogenesis (2013 - 2017)
Development of a diagnostic and prognostic model for primary open angle glaucoma (POAG) using genomic and endophenotypic constructs (2011 - 2014)
Identification of environmental risk factors for POAG --- Questionnaire based study (2013 - 2015)
Identification of Genetic biomarkers for disease progression in Angle Closure (2013 - 2016)
Characterization of Slc4a11 gene depleted mice to study Congenital Hereditary Endothelial Dystrophy (CHED2) and Fuchs Endothelial Corneal Dystrophy (FECD) (2008 - 2011)
Investigating the role of SLC4A11 gene in the corneal endothelium in health and disease using RNA interference (RNAi) (2008 - 2010)
Generation of a Mouse Model for Recessive Congenital Hereditary Endothelial Dystrophy (CHED2) and Fuchs Endothelial Corneal Dystrophy (FECD) (2008 - 2010)
The identification of genes causing corneal endothelial dystrophies (2005 - 2008)
An investigation into the genetic basis of partial penetrance phenotype, characteristic of autosomal dominant retinitis pigmentosa locus on chromosome 19q13.4 (RP11) (2005 - 2007)
Investigating the genetic basis of primary angle closure glaucoma (2004 - 2007)
Investigating the genetic basis of Fuch’s corneal dystrophy: Screening of potential candidate genes (2007)
Investigating the genetic basis of glaucoma: Potential candidate genes (2005)
Investigating the genetic basis of age-related macular degeneration: Role of complement factor H polymorphisms (2005)
Molecular analysis of PRPF31 and CA4 genes in retinitis pigmentosa patients from Singapore (2004)
Molecular analysis of Splicing factor genes in retinitis pigmentosa (1998 - 2004)
Identification of gene for autosomal dominant retinitis pigmentosa locus on chromosome 19q13.4 (RP11) (1994 - 1998)