Publications

Featured Publications

Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease.

Chu Y, Hu J, Liang H, Kanchwala M, Xing C, Beebe W, Bowman CB, Gong X, Corey DR, Mootha VV, 2020 May Nucleic Acids Res.

Delivery of Antisense Oligonucleotides to the Cornea.

Chau VQ, Hu J, Gong X, Hulleman JD, Ufret-Vincenty RL, Rigo F, Prakash TP, Corey DR, Mootha VV, 2020 Mar Nucleic Acid Ther

Oligonucleotides Targeting TCF4 Triplet Repeat Expansion Inhibit RNA Foci and Mis-splicing in Fuchs' Dystrophy.

Hu J, Rong Z, Gong X, Zhou Z, Sharma VK, Xing C, Watts JK, Corey DR, Mootha VV 2018 Jan Hum. Mol. Genet.

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.

Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X 2017 Sep Invest. Ophthalmol. Vis. Sci. 11 58 4579-4585

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

Afshari NA, Igo RP, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK 2017 Mar Nat Commun 8 14898

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Cunnusamy K, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV 2016 Feb Cornea 2 35 281-5

A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.

Hulleman JD, Nguyen A, Ramprasad VL, Murugan S, Gupta R, Mahindrakar A, Angara R, Sankurathri C, Mootha VV 2016 Mol. Vis. 22 73-81

Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.

Soliman AZ, Xing C, Radwan SH, Gong X, Mootha VV 2015 Sep JAMA Ophthalmol 1-6

Impact of Donor Age on Corneal Endothelium-Descemet Membrane Layer Scroll Formation.

Bennett A, Mahmoud S, Drury D, Cavanagh HD, McCulley JP, Petroll WM, Mootha VV 2015 Jan Eye Contact Lens

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.

Mootha VV, Hussain I, Cunnusamy K, Graham E, Gong X, Neelam S, Xing C, Kittler R, Petroll WM 2015 Feb Invest. Ophthalmol. Vis. Sci.

Trans-ethnic Replication of Association of CTG18.1 Repeat Expansion of TCF4 Gene with Fuchs Corneal Dystrophy in Chinese Implies Common Causal Variant.

Xing C, Gong X, Hussain I, Khor CC, Tan DT, Aung T, Mehta JS, Vithana EN, Mootha VV 2014 Oct Invest. Ophthalmol. Vis. Sci.

Association and Familial Segregation of CTG18.1 Trinucleotide Repeat Expansion of TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy.

Mootha VV, Gong X, Ku HC, Xing C 2013 Nov Invest. Ophthalmol. Vis. Sci.

Corneal higher-order aberrations after Descemet's stripping automated endothelial keratoplasty.

Muftuoglu O, Prasher P, Bowman RW, McCulley JP, Mootha VV 2010 May Ophthalmology 5 117 878-884.e6

Corneal deturgescence after Descemet stripping automated endothelial keratoplasty evaluated by Visante anterior segment optical coherence tomography.

Di Pascuale MA, Prasher P, Schlecte C, Arey M, Bowman RW, Cavanagh HD, McCulley JP, Mootha VV 2009 Jul Am. J. Ophthalmol. 1 148 32-7.e1

Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.

Saboo US, Penke D, Mahindrakar A, Uddaraju M, Sankurathri C, Gong X, Xing C, Mootha VV 2016 Sep Ophthalmic Genet. 1-3

Descemet's Stripping Automated Endothelial Keratoplasty Tissue Insertion Devices.

Khan SN, Shiakolas PS, Mootha VV 2015 Oct-Dec J Ophthalmic Vis Res 4 10 461-8

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Mobius syndrome.

Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV 2014 Mol. Vis. 20 368-75

Blunt scissors stromal dissection technique for deep anterior lamellar keratoplasty.

Anwar DS, Kruger MM, Mootha VV 2014 Clin Ophthalmol 8 1849-54

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.

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, Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A, Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasathian S, Jr RP, Lass JH, Chew E, Iyengar SK, 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 2013 Mar Nat. Genet. 3 45 314-8

Association of Smoking and Other Risk Factors with Fuchs' Endothelial Corneal Dystrophy Severity and Corneal Thickness.

Zhang X, Igo RP, Fondran JR, Mootha VV, Oliva M, Hammersmith K, Sugar A, Lass JH, Iyengar SK 2013 Jul Invest. Ophthalmol. Vis. Sci.

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.

Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M, Burdon KP, Craig JE, Iyengar SK, Igo RP, Lass JH, Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ, Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD, Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B, Rudan I, Aung T, Hofman A, Uitterlinden AG, Bencic G, Khor CC, Forward H, Pärssinen O, Mitchell P, Rivadeneira F, Hewitt AW, Williams C, Oostra BA, Teo YY, Hammond CJ, Stambolian D, Mackey DA, Klaver CC, Wong TY, Saw SM, Baird PN 2013 Aug Am. J. Hum. Genet. 2 93 264-77

Relationship Between Fuchs Endothelial Corneal Dystrophy Severity and Glaucoma and/or Ocular Hypertension.

Nagarsheth M, Singh A, Schmotzer B, Babineau DC, Sugar J, Lee WB, Iyengar SK, Lass JH 2012 Nov Arch. Ophthalmol. 11 130 1384-8

Sarnicola Air-Visco Bubble Technique in Deep Anterior Lamellar Keratoplasty.

Muftuoglu O, Toro P, Hogan RN, Bowman RW, Cavanagh HD, McCulley JP, Mootha VV, Sarnicola V 2012 Nov Cornea

Features of Urrets-Zavalia syndrome after descemet stripping automated endothelial keratoplasty.

Anwar DS, Chu CY, Prasher P, Bowman RW, Mootha VV 2012 Nov Cornea 11 31 1330-4

Histopathology and spectral domain OCT findings of pneumatic-assisted dissection in DALK.

Kim SY, Muftuoglu O, Hogan RN, Bowman RW, Cavanagh HD, McCulley JP, Mootha VV 2012 Nov Cornea 11 31 1288-93

Identification problems with sterile fungi, illustrated by a keratitis due to a non-sporulating Chaetomium-like species.

Vinod Mootha V, Shahinpoor P, Sutton DA, Xin L, Najafzadeh MJ, de Hoog GS 2012 May Med. Mycol. 4 50 361-7

First report of traumatic globe rupture after femtosecond laser-assisted penetrating keratoplasty.

Kruger MM, Mootha VV 2012 Dec Cornea 12 31 1504-6

Relationship of Fuchs endothelial corneal dystrophy severity to central corneal thickness.

Kopplin LJ, Przepyszny K, Schmotzer B, Rudo K, Babineau DC, Patel SV, Verdier DD, Jurkunas U, Iyengar SK, Lass JH 2012 Apr Arch. Ophthalmol. 4 130 433-9

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.

Igo RP, Kopplin LJ, Joseph P, Truitt B, Fondran J, Bardenstein D, Aldave AJ, Croasdale CR, Price MO, Rosenwasser M, Lass JH, Iyengar SK 2012 PLoS ONE 10 7 e46742

Glaucoma in patients with corneal endothelial dystrophy.

Ali ZK, Whitson JT, Mootha VV, Witherspoon SR, Joseph JA, Joseph AM, Hynan LS, Cavanagh HD 2011 Nov Eye Contact Lens 6 37 332-6

Comparative study of descemet stripping automated endothelial keratoplasty donor preparation by Moria CBm microkeratome, horizon microkeratome, and Intralase FS60.

Mootha VV, Heck E, Verity SM, Petroll WM, Lakshman N, Muftuoglu O, Bowman RW, McCulley JP, Cavanagh HD 2011 Mar Cornea 3 30 320-4

Shifting bubble sign, a useful tip in manual dissection of deep anterior lamellar keratoplasty

Niknam S, Rajabi MT, Mootha VV, Shahrzad SS, Rajabi MB, Zazhi GY 2011 Int J Ophthalmology 11 3 388-389

Comparative Study of Descemet Stripping Automated Endothelial Keratoplasty Donor Preparation by Moria CBm Microkeratome, Horizon Microkeratome, and Intralase FS60.

Mootha VV, Heck E, Verity SM, Petroll WM, Lakshman N, Muftuoglu O, Bowman RW, McCulley JP, Cavanagh HD 2010 Nov Cornea

Effect of systane and optive on aqueous tear evaporation in patients with dry eye disease.

Wojtowicz JC, Arciniega JC, McCulley JP, Mootha VV 2010 Nov Eye Contact Lens 6 36 358-60

Apodized diffractive intraocular lens implantation after laser in situ keratomileusis with or without subsequent excimer laser enhancement.

Muftuoglu O, Dao L, Mootha VV, Verity SM, Bowman RW, Cavanagh HD, McCulley JP 2010 Nov J Cataract Refract Surg 11 36 1815-21

Risk factors for intraocular pressure elevation after descemet stripping automated endothelial keratoplasty.

Allen MB, Lieu P, Mootha VV, Bowman RW, Petroll WM, Tong L, Kooner KS, Cavanagh HD, Whitson JT, Aggarwal NK 2010 Jul Eye Contact Lens 4 36 223-7

Wavefront-guided ablation retreatment using Iris registration.

Mohamed EM, Muftuoglu O, Bowman W, Cavanagh HD, Mootha VV, Radwan GA, McCulley JP 2010 Jan Eye Contact Lens 1 36 54-9

Corneal power measurement with a rotating Scheimpflug imaging system after Descemet-stripping automated endothelial keratoplasty.

Prasher P, Muftuoglu O, Bowman RW, Cavanagh HD, McCulley JP, Mootha VV 2010 Aug J Cataract Refract Surg 8 36 1358-64

Corneal thickness association with ocular and corneal high-order aberrations.

Mohamed EM, Wojtowicz JC, Bowman W, Cavanagh HD, Mootha V, Verity S, McCulley JP 2009 Nov Eye Contact Lens 6 35 297-301

Laser in situ keratomileusis for residual refractive errors after apodized diffractive multifocal intraocular lens implantation.

Muftuoglu O, Prasher P, Chu C, Mootha VV, Verity SM, Cavanagh HD, Bowman RW, McCulley JP 2009 Jun J Cataract Refract Surg 6 35 1063-71

Epithelial downgrowth after descemet stripping automated endothelial keratoplasty.

Prasher P, Muftuoglu O, Hsiao ML, Bowman RW, Hogan RN, Mootha VV 2009 Jul Cornea 6 28 708-11

Tandem scanning confocal microscopy of cornea after descemet stripping automated endothelial keratoplasty.

Prasher P, Muftuoglu O, Bowman RW, McCulley JP, Petroll WM, Cavanagh HD, Mootha VV 2009 Jul Eye Contact Lens 4 35 196-202

Evaluation of the role of ProKera in the management of ocular surface and orbital disorders.

Pachigolla G, Prasher P, Di Pascuale MA, McCulley JP, McHenry JG, Mootha VV 2009 Jul Eye Contact Lens 4 35 172-5

Traumatic graft dehiscence after anterior lamellar keratoplasty.

Prasher P, Muftuoglu O, Mootha VV 2009 Feb Cornea 2 28 240-2

Marked reduction of alcohol dehydrogenase in keratoconus corneal fibroblasts.

Mootha VV, Kanoff JM, Shankardas J, Dimitrijevich S 2009 Mol. Vis. 15 706-12

Assessment of keratocyte activation following LASIK with flap creation using the IntraLase FS60 laser.

Petroll WM, Bowman RW, Cavanagh HD, Verity SM, Mootha VV, McCulley JP 2008 Oct J Refract Surg 8 24 847-9

Corneal melting after use of nepafenac in a patient with chronic cystoid macular edema after cataract surgery.

Di Pascuale MA, Whitson JT, Mootha VV 2008 Mar Eye Contact Lens 2 34 129-30

Intraocular lens power calculation after myopic laser in situ keratomileusis: Estimating the corneal refractive power.

Awwad ST, Manasseh C, Bowman RW, Cavanagh HD, Verity S, Mootha V, McCulley JP 2008 Jul J Cataract Refract Surg 7 34 1070-6

Intraocular lens power calculation after radial keratotomy: estimating the refractive corneal power.

Awwad ST, Dwarakanathan S, Bowman RW, Cavanagh HD, Verity SM, Mootha VV, McCulley JP 2007 Jun J Cataract Refract Surg 6 33 1045-50

Slit-lamp, confocal, and light microscopic findings of corneal siderosis.

Witherspoon SR, Hogan RN, Petroll WM, Mootha VV 2007 Dec Cornea 10 26 1270-2

Computed tomography in the diagnosis of occult open-globe injuries.

Arey ML, Mootha VV, Whittemore AR, Chason DP, Blomquist PH 2007 Aug Ophthalmology 8 114 1448-52

Comparison of the corneal response to laser in situ keratomileusis with flap creation using the FS15 and FS30 femtosecond lasers: clinical and confocal microscopy findings.

Hu MY, McCulley JP, Cavanagh HD, Bowman RW, Verity SM, Mootha VV, Petroll WM 2007 Apr J Cataract Refract Surg 4 33 673-81

Mucous membrane pemphigoid with fatal bronchial involvement in a seventeen-year-old girl.

Gamm DM, Harris A, Mehran RJ, Wood M, Foster CS, Mootha VV 2006 May Cornea 4 25 474-8

Advanced keratomalacia with descemetocele in an infant with cystic fibrosis.

Wamsley S, Patel SM, Wood MG, Villalobos R, Albert DM, Mootha VV 2005 Jul Arch. Ophthalmol. 7 123 1012-6

Incidence of and risk factors for residual posterior capsule opacification after cataract surgery.

Mootha VV, Tesser R, Qualls C 2004 Nov J Cataract Refract Surg 11 30 2354-8

Slitlamp, specular, and light microscopic findings of human donor corneas after laser-assisted in situ keratomileusis.

Mootha VV, Dawson D, Kumar A, Gleiser J, Qualls C, Albert DM 2004 May Arch. Ophthalmol. 5 122 686-92

Microbial keratitis identified during eye bank screen of corneoscleral tissue harvested from patients with laser in situ keratomileusis history.

Mootha VV, Dawson D, Kumar A, Gleiser J, Albert DM 2004 Jul Arch. Ophthalmol. 7 122 1058-60

Bilateral keratoconjunctivitis associated with lichen planus.

Rhee MK, Mootha VV 2004 Jan Cornea 1 23 100-5

Pterygia with deep corneal changes.

Mootha VV, Pingree M, Jaramillo J 2004 Aug Cornea 6 23 635-8

Nematode in the anterior chamber.

Ogirala GK, Raju VK, Pradesh A, Davids HR, Mootha VV 2003 Sep Arch. Ophthalmol. 9 121 1338-9

Intraocular hemorrhages due to warfarin fluconazole drug interaction in a patient with presumed Candida endophthalmitis.

Mootha VV, Schluter ML, Das A 2002 Jan Arch. Ophthalmol. 1 120 94-5

Postprandial transient visual loss. A symptom of critical carotid stenosis.

Levin LA, Mootha VV 1997 Mar Ophthalmology 3 104 397-401

Subperiosteal orbital hemorrhage from retrobulbar injection resulting in blindness.

Mootha VV, Cowden TP, Sires BS, Dortzbach RK 1997 Jan Arch. Ophthalmol. 1 115 123-4