Selected Publications

All publications by Anthony J Aldave, MD

Choo CH, Boto de Los Bueis A, Chung DD, Aldave AJ. Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy. Cornea. 2021 Aug 6. doi: 10.1097/ICO.0000000000002828. Epub ahead of print. PMID: 34369396; PMCID: N/A

Yung M, Chen AC, Chung DD, Barrington A, Zhang J, Frausto RF, Magalhaes OA, Aldave AJ. Corneal ectasia associated with posterior lamellar opacification. Ophthalmic Genet. 2021 Aug;42(4):486-492. doi: 10.1080/13816810.2021.1923034. Epub 2021 May 18. PMID: 34003075; PMCID: N/A

Boere PM, Bonnet C, Frausto RF, Fung SSM, Aldave AJ. Multimodal Imaging of Pre-Descemet Corneal Dystrophy Associated With X-Linked Ichthyosis and Deletion of the STS Gene. Cornea. 2020 Nov;39(11):1442-1445. doi: 10.1097/ICO.0000000000002382. PMID: 32482962; PMCID: N/A

Lee LT, Zhang W, Shibayama V, Al-Hashimi S, Aldave AJ, Deng SX, Fung SSM. Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome. Cornea. 2020 Nov; 39(11): 1446-1449. doi: 10.1097/ICO.0000000000002415. PMID: 32618851; PMCID: N/A

Chen AC, Niruthisard D, Chung DD, Chuephanich P, Aldave AJ. Identification of A Novel TGFBI Gene Mutation (p.Serine524Cystine) Associated with Late Onset Recurrent Epithelial Erosions and Bowman Layer Opacities. Ophthalmic Genet. 2020 Dec;41(6):639-644. doi: 10.1080/13816810.2020.1814345. PMID: 32880217; PMCID: N/A

Zhang W, Frausto R, Chung DD, Griffis CG, Kao L, Chen A, Azimov R, Sampath AP, Kurtz I, Aldave AJ. Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies. Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):39. doi: 10.1167/iovs.61.8.39. PMID: 32721020; PMCID: PMC7425690.

Frausto RF, Swamy VS, Peh GSL, Boere PM, Hanser EM, Chung DD, George BL, Morselli M, Kao L, Azimov R, Wu J, Pellegrini M, Kurtz I, Mehta JS, Aldave AJ. Phenotypic and functional characterization of corneal endothelial cells during in vitro expansion. Sci Rep. 2020 May 4;10(1):7402. doi: 10.1038/s41598-020-64311-x. PMID: 32366916; PMCID: PMC7198491.

Dong PN, Cung LX, Sam TK, Hang DTT, Chung DD, Alkadi TA, Buckshey A, Zhang J, Kassels A, Aldave AJ. Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy. Case Rep Ophthalmol. 2020 Mar 17;11(1):120-126. doi: 10.1159/000506435. PMID: 32308613; PMCID: PMC7154238.

Alió Del Barrio JL, Chung DD, Al-Shymali O, Barrington A, Jatavallabhula K, Swamy VS, Yébana P, Angélica Henríquez-Recine M, Boto-de-Los-Bueis A, Alió JL, Aldave AJ. Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis. Am J Ophthalmol. 2020 Apr;212:88-97. doi: 10.1016/j.ajo.2019.11.024. PMID: 31782998; PMCID: PMC7113114.

Zhang W, Kassels AC, Barrington A, Khan S, Tomatsu S, Alkadi T, Aldave A. Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. Am J Ophthalmol Case Rep. 2019 Nov 13;16:100571. doi: 10.1016/j.ajoc.2019.100571. PMID: 31799478; PMCID: PMC6881691.

Chung DD, Zhang W, Jatavallabhula K, Barrington A, Jung J, Aldave AJ. Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy. Exp Eye Res. 2019 Nov;188:107696. doi: 10.1016/j.exer.2019.107696. PMID: 31233731; PMCID: N/A

Modabber M, Darvish-Zargar M, Breton L, Chung DD, Duong H, Aldave AJ, Choremis J. Crystalline Keratopathy in Post-LASIK Ectasia: A Case Report. Cornea. 2019 May;38(5):635-638. doi: 10.1097/ICO.0000000000001849. PMID: 30575622; PMCID: N/A

Vahedi F, Chung DD, Gee KM, Chuephanich P, Aldave AJ. Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family. Cornea. 2018 Jul;37(7):909-911. doi: 10.1097/ICO.0000000000001619. PMID: 29708937; PMCID: PMC5932625

Cervantes AE, Gee KM, Whiting MF, Frausto RF, Aldave AJ. Confirmation and refinement of the heterozygous deletion of the small leucine-rich proteoglycans associated with posterior amorphous corneal dystrophy. Ophthalmic Genet. 2018 Aug;39(4):419-424. doi: 10.1080/13816810.2018.1459736. PMID: 29671669; PMCID: PMC6309915.

Zakharevich M, Kattan JM, Chen JL, Lin BR, Cervantes AE, Chung DD, Frausto RF, Aldave AJ. Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function. Mol Vis. 2017 Oct 14;23:740-752. PMID: 29046608; PMCID: PMC5644665.

Chung DD, Frausto RF, Lin BR, Hanser EM, Cohen Z, Aldave AJ. Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy. Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3202-3214. doi: 10.1167/iovs.17-21423. PMID: 28654985; PMCID: PMC5488878.

Kattan JM, Serna-Ojeda JC, Sharma A, Kim EK, Ramirez-Miranda A, Cruz-Aguilar M, Cervantes AE, Frausto RF, Zenteno JC, Graue-Hernandez EO, Aldave AJ. Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. Cornea. 2017 Feb;36(2):210-216. doi: 10.1097/ICO.0000000000001045. PMID: 28060069; PMCID: PMC5298206.

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. PMID: 28046031; PMCID: PMC5207508.

Kao L, Azimov R, Shao XM, Frausto RF, Abuladze N, Newman D, Aldave AJ, Kurtz I. Multifunctional ion transport properties of human SLC4A11: comparison of the SLC4A11-B and SLC4A11-C variants. Am J Physiol Cell Physiol. 2016 Nov 1;311(5):C820-C830. doi: 10.1152/ajpcell.00233.2016. PMID: 27581649; PMCID: PMC5130583.

Chung DW, Frausto RF, Chiu S, Lin BR, Aldave AJ. Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression. Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4136-43. doi: 10.1167/iovs.16-19533. PMID: 27537263; PMCID: PMC4991021.

Ann LB, Abbouda A, Frausto RF, Huseynli S, Gupta K, Alió JL, Aldave AJ. Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene. Br J Ophthalmol. 2017 Apr;101(4):509-513. doi: 10.1136/bjophthalmol-2015-307602. PMID: 27402970; PMCID: N/A

Le DJ, Chung DW, Frausto RF, Kim MJ, Aldave AJ. Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus. PLoS One. 2016 Jun 29;11(6):e0158467. doi: 10.1371/journal.pone.0158467. PMID: 27355326; PMCID: PMC4927100.

Lin BR, Le DJ, Chen Y, Wang Q, Chung DD, Frausto RF, Croasdale C, Yee RW, Hejtmancik FJ, Aldave AJ. Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. PLoS One. 2016 Jun 16;11(6):e0157418. doi: 10.1371/journal.pone.0157418. PMID: 27309958; PMCID: PMC4911149.

Lin BR, Frausto RF, Vo RC, Chiu SY, Chen JL, Aldave AJ. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. J Ophthalmol. 2016;2016:1968493. doi: 10.1155/2016/1968493. PMID: 27382485; PMCID: PMC4921136.

Chen JL, Lin BR, Gee KM, Gee JA, Chung DW, Frausto RF, Deng SX, Aldave AJ. Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. Mol Vis. 2015 Dec 31;21:1378-86. PMID: 26788030; PMCID: PMC4704769.

Frausto RF, Le DJ, Aldave AJ. Transcriptomic Analysis of Cultured Corneal Endothelial Cells as a Validation for Their Use in Cell Replacement Therapy. Cell Transplant. 2016;25(6):1159-76. doi: 10.3727/096368915X688948. Epub 2015 Sep 2. PMID: 26337789; PMCID: PMC4775465.

Bui T, Young JW, Frausto RF, Markello TC, Glasgow BJ, Aldave AJ. Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity. Ophthalmic Genet. 2016;37(1):76-80. doi: 10.3109/13816810.2014.889169. Epub 2014 Feb 20. PMID: 24555743; PMCID: PMC4139474.

Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ. X-linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). Ophthalmic Genet. 2015 Jun;36(2):145-8. doi: 10.3109/13816810.2013.837187. Epub 2013 Sep 27. PMID: 24073597; PMCID: PMC3968246.

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ. Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy. Mol Vis. 2015 Sep 17;21:1093-100. PMID: 26396486; PMCID: PMC4575904.

Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ. Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. PMID: 25190660; PMCID: PMC4184387.

Jang MS, Roldan AN, Frausto RF, Aldave AJ. Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum. Vision Res. 2014 Jul;100:88-92. doi: 10.1016/j.visres.2014.04.007. Epub 2014 Apr 26. PMID: 24780443; PMCID: PMC4074516.

Kim MJ, Frausto RF, Rosenwasser GO, Bui T, Le DJ, Stone EM, Aldave AJ. Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. PLoS One. 2014 Apr 23;9(4):e95037. doi: 10.1371/journal.pone.0095037. PMID: 24759697; PMCID: PMC3997350.

Aldave AJ, Ann LB, Frausto RF, Nguyen CK, Yu F, Raber IM. Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following  confirmation of associated significant corneal steepening. JAMA Ophthalmol. 2013 Dec;131(12):1583-90. doi: 10.1001/jamaophthalmol.2013.5036. PMID: 24113819; PMCID: PMC3888803.

Hung C, Ayabe RI, Wang C, Frausto RF, Aldave AJ. Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. Cornea. 2013 Sep;32(9):1283-7. doi: 10.1097/ICO.0b013e318298e176. PMID: 23807007; PMCID: PMC3740086.

Aldave AJ, Han J, Frausto RF. Genetics of the corneal endothelial dystrophies: an evidence-based review. Clin Genet. 2013 Aug;84(2):109-19. doi: 10.1111/cge.12191. Epub 2013 Jun 10. PMID: 23662738; PMCID: PMC3885339.

Bakhtiari P, Frausto RF, Roldan AN, Wang C, Yu F, Aldave AJ. Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy. Mol Vis. 2013;19:575-80. Epub 2013 Mar 15. PMID: 23559851; PMCID: PMC3611940.

Yellore VS, Rayner SA, Nguyen CK, Gangalum RK, Jing Z, Bhat SP, Aldave AJ. Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2012 Jan 25;53(1):273-8. doi: 10.1167/iovs.11-8038. PMID: 22199242; PMCID: PMC3292363.

Yellore VS, Rayner SA, Aldave AJ. TGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell line. Invest Ophthalmol Vis Sci. 2011 Feb 9;52(2):757-63. doi: 10.1167/iovs.10-5362. PMID: 20881301; PMCID: PMC3053104.

Lai IN, Yellore VS, Rayner SA, D'Silva NC, Nguyen CK, Aldave AJ. The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus. Mol Vis. 2010 Dec 18;16:2829-38. PMID: 21203404; PMCID: PMC3012649.

Aldave AJ, Rosenwasser GO, Yellore VS, Papp JC, Sobel EM, Pham MN, Chen MC, Dandekar S, Sripracha R, Rayner SA, Sassani JW, Gorin MB. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4006-12. doi: 10.1167/iovs.09-4067. Epub 2010 Mar 31. PMID: 20357198; PMCID: PMC2910638.

Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Cornea. 2010 Jul;29(7):777-80. doi: 10.1097/ICO.0b013e3181c84bcf. PMID: 20489584; PMCID: N/A

Aldave AJ, Yellore VS, Vo RC, Kamal KM, Rayner SA, Plaisier CL, Chen MC, Damani MR, Pham MN, Gorin MB, Sobel E, Papp J. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Cornea. 2009 Aug;28(7):801-7. doi: 10.1097/ICO.0b013e31819672fb. PMID: 19574904; PMCID: PMC2714875.

Aldave AJ, Yellore VS, Sonmez B, Bourla N, Salem AK, Khan MA, Rayner SA, Glasgow BJ. A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. Arch Ophthalmol. 2008 Mar;126(3):371-7. doi: 10.1001/archopht.126.3.371. PMID: 18332318; PMCID: PMC2860538.

Yellore VS, Sonmez B, Rayner SA, Aldave AJ. A late-onset unilateral variant of lattice corneal dystrophy not associated with a TGFBI mutation. Br J Ophthalmol. 2008 Mar;92(3):426-7. doi: 10.1136/bjo.2007.120352. PMID: 18303168; PMCID: N/A

Aldave AJ, Yellore VS, Yu F, Bourla N, Sonmez B, Salem AK, Rayner SA, Sampat KM, Krafchak CM, Richards JE. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007  Nov 1;143A(21):2549-56. doi: 10.1002/ajmg.a.31978. PMID: 17935237; PMCID: N/A

Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat  KM, Gorin MB, Aldave AJ. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007 Sep 24;13:1777-82. PMID: 17960116; PMCID: N/A

Aldave AJ, Bourla N, Yellore VS, Rayner SA, Khan MA, Salem AK, Sonmez B. Keratoconus is not associated with mutations in COL8A1 and COL8A2. Cornea. 2007 Sep;26(8):963-5. doi: 10.1097/ICO.0b013e31811dfaf7. PMID: 17721297; PMCID: N/A

Yellore VS, Sonmez B, Chen MC, Rayner SA, Thonar EJ, Aldave AJ. An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. Ophthalmic Genet. 2007 Sep;28(3):169-74. doi: 10.1080/13816810701407925. PMID: 17896316; PMCID: N/A

Aldave AJ, Yellore VS, Bourla N, Momi RS, Khan MA, Salem AK, Rayner SA, Glasgow BJ, Kurtz I. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007 Aug;26(7):896-900. doi: 10.1097/ICO.0b013e318074bb01. PMID: 17667634; PMCID: N/A

Aldave AJ, Sonmez B, Bourla N, Schultz G, Papp JC, Salem AK, Rayner SA, Yellore VS. Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. Ophthalmic Genet. 2007 Jun;28(2):57-67. doi: 10.1080/13816810701351321. PMID: 17558846; PMCID: N/A

Yellore VS, Papp JC, Sobel E, Khan MA, Rayner SA, Farber DB, Aldave AJ. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med. 2007 Apr;9(4):228-34. doi: 10.1097/gim.0b013e31803c4dc2. PMID: 17438387; PMCID: N/A

Aldave AJ, Sonmez B, Forstot SL, Rayner SA, Yellore VS, Glasgow BJ. A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy. Am J Ophthalmol. 2007 Mar;143(3):416-9. doi: 10.1016/j.ajo.2006.11.056. Epub 2006 Dec 29. PMID: 17317389; PMCID: N/A

Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3787-90. doi: 10.1167/iovs.05-1635. PMID: 16936088; PMCID: N/A

Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. No VSX1 gene mutations associated with keratoconus. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):2820-2. doi: 10.1167/iovs.05-1530. PMID: 16799019; PMCID: N/A

Aldave AJ, Rayner SA, King JA, Salem AK, Prechanond A, Hashida S, Affeldt JC, Meallet MA, Glasgow BJ, Small KW, Yellore VS. No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid deposition. Cornea. 2006 May;25(4):413-5. doi: 10.1097/01.ico.0000225260.41594.4a. PMID: 16670477; PMCID: N/A

Aldave AJ, Rayner SA, Kim BT, Prechanond A, Yellore VS. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis. 2006 Feb 27;12:142-6. PMID: 16541014; PMCID: N/A

Aldave AJ, Rayner SA, Principe AH, Affeldt JA, Katsev D, Yellore VS. Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. Mol Vis. 2005 Sep 2;11:713-6. PMID: 16163269 PMCID: N/A

Aldave AJ, Rayner SA, King JA, Affeldt JA, Yellore VS. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology. 2005 Jun;112(6):1017-22. doi: 10.1016/j.ophtha.2004.12.044. PMID: 15885785; PMCID: N/A

Yellore VS, Rayner SA, Emmert-Buck L, Tabin GC, Raber I, Hannush SB, Stulting RD, Sampat K, Momi R, Principe AH, Aldave AJ. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest Ophthalmol Vis Sci. 2005 May;46(5):1599-603. doi: 10.1167/iovs.04-1321. PMID: 15851557; PMCID: N/A

Aldave AJ, Yellore VS, Principe AH, Abedi G, Merrill K, Chalukya M, Small KW, Udar N. Candidate gene screening for posterior polymorphous dystrophy. Cornea.2005 Mar;24(2):151-5. doi: 10.1097/01.ico.0000141235.26096.1d. PMID: 15725882; PMCID: N/A

Aldave AJ, Principe AH, Lin DY, Yellore VS, Small KW. Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis. Cornea. 2005 Jan;24(1):112-5. doi: 10.1097/01.ico.0000134194.71981.ab. PMID: 15604878; PMCID: N/A

Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, Rao NA, Small KW, Klintworth GK. Lattice corneal dystrophy associated with the Ala546Asp  and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004 Nov;138(5):772-81. doi: 10.1016/j.ajo.2004.06.021. PMID: 15531312; PMCID: N/A

Aldave AJ, Yellore VS, Self CA, Holsclaw D, Small K. The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. Ophthalmology. 2004 Jul;111(7):1407-9. doi: 10.1016/j.ophtha.2003.10.033. PMID: 15234146; PMCID: N/A

Aldave AJ, Lin DY, Principe AH, Yellore VS, Weissman BA. Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions. Am J Ophthalmol. 2004 Jun;137(6):1124-7. doi: 10.1016/j.ajo.2003.11.065. PMID: 15183802; PMCID: N/A

Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004 Mar;137(3):465-73. doi: 10.1016/j.ajo.2003.09.036. PMID: 15013869; PMCID: N/A

Aldave AJ, Yellore VS, Hwang DG. Atypical vortex pattern of corneal deposits in granular corneal dystrophy. Cornea. 2003 Nov;22(8):754-9. doi: 10.1097/00003226-200311000-00008. PMID: 14576527; PMCID: N/A

Hong Jiaxu, Xu Jianjiang, Wei Anji, Deng Sophie X, Cui Xinhan, Yu Xiaobo, Sun Xinghuai, A new tonometer--the Corvis ST tonometer: clinical comparison with noncontact and Goldmann applanation tonometers. Investigative ophthalmology & visual science. 2013; 54(1): 659-65. 

Chen Yinyin, Huang Kevin, Nakatsu Martin N, Xue Zhigang, Deng Sophie X, Fan Guoping, Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cells. Human molecular genetics. 2013; 22(7): 1271-9. 

Kaufman Stephen C, Jacobs Deborah S, Lee W Barry, Deng Sophie X, Rosenblatt Mark I, Shtein Roni M, Options and adjuvants in surgery for pterygium: a report by the American Academy of Ophthalmology. Ophthalmology. 2013; 120(1): 201-8. 

Nakatsu Martin N, Vartanyan Lily, Vu Daniel M, Ng Madelena Y, Li Xinmin, Deng Sophie X, Preferential biological processes in the human limbus by differential gene profiling. PloS one. 2013; 8(4): e61833. 

Sejpal Kunjal, Bakhtiari Pejman, Deng Sophie X, Presentation, diagnosis and management of limbal stem cell deficiency. Middle East African journal of ophthalmology. 2013; 20(1): 5-10. 

Deng Sophie X, Sejpal Kunjal D, Tang Qiongyan, Aldave Anthony J, Lee Olivia L, Yu Fei, Characterization of limbal stem cell deficiency by in vivo laser scanning confocal microscopy: a microstructural approach. Archives of ophthalmology. 2012; 130(4): 440-5. 

Hong Jiaxu, Deng Sophie X, Xu Jianjiang, Enzymatic vitreolysis with ocriplasmin for vitreomacular traction and macular holes. The New England journal of medicine. 2012; 367(21): 2053; author reply 2054. 

Kurbanyan Kristina, Sejpal Kunjal D, Aldave Anthony J, Deng Sophie X, In vivo confocal microscopic findings in Lisch corneal dystrophy. Cornea. 2012; 31(4): 437-41. 

Wang Ling, Deng Sophie X, Lu Luo, Role of CTCF in EGF-induced migration of immortalized human corneal epithelial cells. Investigative ophthalmology & visual science. 2012; 53(2): 946-51. 

Hong Jiaxu, Zheng Tianyu, Xu Jianjiang, Deng Sophie X, Chen Ling, Sun Xinghuai, Le Qihua, Li Yimin, Assessment of limbus and central cornea in patients with keratolimbal allograft transplantation using in vivo laser scanning confocal microscopy: an observational study. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie. 2011; 249(5): 701-8. 

Zarei-Ghanavati Siamak, Baghdasaryan Elmira, Ramirez-Miranda Arturo, Nguyen Myhanh, Yu Fei, Lee Grace J, Deng Sophie X, Elevated intraocular pressure is a common complication during active microbial keratitis. American journal of ophthalmology. 2011; 152(4): 575-581.e1. 

Ramirez-Miranda Arturo, Nakatsu Martin N, Zarei-Ghanavati Siamak, Nguyen Christine V, Deng Sophie X, Keratin 13 is a more specific marker of conjunctival epithelium than keratin 19. Molecular vision. 2011; 17(5): 1652-61. 

Zarei-Ghanavati Siamak, Ramirez-Miranda Arturo, Deng Sophie X, Limbal lacuna: a novel limbal structure detected by in vivo laser scanning confocal microscopy. Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye. 2011; 42 Online(2): e129-31. 

Tsui Irena, Uslan Daniel Z, Hubschman Jean-Pierre, Deng Sophie X, Nocardia farcinica Infection of a Baerveldt implant and endophthalmitis in a patient with a Boston type I keratoprosthesis. Journal of glaucoma. 2011; 19(5): 339-40. 

Wiaux Christophe, Baghdasaryan Elmira, Lee Olivia L, Bourges Jean-Louis, Deng Sophie X, Yu Fei, Aldave Anthony J, Outcomes after Descemet stripping endothelial keratoplasty in glaucoma patients with previous trabeculectomy and tube shunt implantation. Cornea. 2011; 30(12): 1304-11. 

Truong Thuy T, Huynh Kyle, Nakatsu Martin N, Deng Sophie X, SSEA4 is a potential negative marker for the enrichment of human corneal epithelial stem/progenitor cells. Investigative ophthalmology & visual science. 2011; 52(9): 6315-20. 

Nakatsu Martin N, Ding Zhenhua, Ng Madelena Y, Truong Thuy T, Yu Fei, Deng Sophie X, Wnt/β-catenin signaling regulates proliferation of human cornea epithelial stem/progenitor cells. Investigative ophthalmology & visual science. 2011; 52(7): 4734-41. 

Deng Sophie X, Kamal Khairidzan M, Hollander David A, The use of voriconazole in the management of post-penetrating keratoplasty Paecilomyces keratitis. Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics. 2009; 25(2): 175-7. 

Asbell Penny A, Colby Kathryn A, Deng Sophie, McDonnell Peter, Meisler David M, Raizman Michael B, Sheppard John D, Sahm Daniel F, Ocular TRUST: nationwide antimicrobial susceptibility patterns in ocular isolates. American journal of ophthalmology. 2008; 145(6): 951-958. 

Ding Zhenhua, Dong Jun, Liu Jason, Deng Sophie X, Preferential gene expression in the limbus of the vervet monkey. Molecular vision. 2008; 14(6): 2031-41. 

Deng Sophie X, Penland Susan, Gupta Sumit, Fiscella Richard, Edward Deepak P, Tessler Howard H, Goldstein Debra A, Methotrexate reduces the complications of endophthalmitis resulting from intravitreal injection compared with dexamethasone in a rabbit model. Investigative ophthalmology & visual science. 2006; 47(4): 1516-21. 


Deng, S., Pendland, S., Gupta, S., Fiscella, R., Edward, D., Tessler, H., Goldstein, D., Methotrexate reduces the complications of endophthalmitis resulting from intravitreal injection compared with dexamethasone in a rabbit model, Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1516-21

Ding, Z., Dong, J., Liu, J., Deng, S., Preferential Gene Expression of the Limbus in Vervet Monkey, Mol Vis. 2008; 14:2031-41

Asbell, P., Colby, K., Deng, S., et al. Ocular TRUST: Nationwide Antimicrobial Susceptibility Patterns in Ocular Isolates, Am J Ophthalmol. 2008 Jun;145(6):951-8

Deng, S., Kamal KM, Hollander, D., The use of Voriconazole in the Management of Post-penetrating Keratoplasty Paecilomyces keratitis. J Ocul Pharmacol Ther. 2009 Apr;25(2):175-7

Tsui, I., Uslan, D., Hubschman, J., Deng, S., Nocardia farcinica Infection of a Baerveldt Implant in a Patient with a Boston Type I Keratoprosthesis, J Glaucoma. 2010 Jun-Jul 19(5): 339-40

Hong, J., Zheng, T., Xu, J., Deng, S., Chen, L., Sun, X., Le, Q., Pan, Z., Assessment of Keratolimbal Allograft Survival Using In Vivo Laser Scanning Confocal Microscopy, an Observational Study, Graefes Arch Clin Exp Ophthalmol. 2011 May: 249(5):701-8

Nakatsu, M., Ding, Z., Ng, M., Truong, T., Deng, S., Wnt/ß-catenin Signaling in the Regulation of Human Corneal Epithelial Progenitor Cell Proliferation, IOVS, 2011 Jul 1;52(7):4734-41

Zarei-Ghanavati, S., Baghdasaryan, E., Ramirez-Miranda, A., Nguyen, M., Yu, F., Deng, S., Elevated Intraocular Pressure is a Common Complication During Active Microbial Keratitis, Am J. Ophthalmol. 2011 Oct;152(4):575-581

Truong T., Huynh, K., Nakatsu, M, Deng, S., SSEA-4 is a Potential Negative Marker for Human Limbal Stem/Progenitor Cells, IOVS, 2011 Aug 11;52(9):6315-20

Ramirez-Miranda, A., Zarei-Ghanavati, S., Nakatsu, M., Nguyen, C., Deng, S., Keratin 13 is a More Specific Marker of Human Conjunctival Epithelium Than Keratin 19, Mol Vis. 2011;17:1652-61

Wiaux, C., Baghdasaryan, E., Lee, O., Bourges, J., Deng, S., Yu, F., Aldave, A., Outcomes After Descemet Stripping Endothelial Keratoplasty in Glaucoma Patients with Previous Trabeculectomy and Tube Shunt Implantation, Cornea, 2011 Dec;30(12):1304-11

Deng, S., Sejpal, K., Tang, Q., Lee, O., Aldave, A., Yu, F., Characterization of Limbal Stem Cell Deficiency by in vivo Laser Scanning Confocal Microscopy: a Microstructural Approach, Arch Ophthalmol. 2012 Apr;130(4):440-5. Epub 2011 Dec 12

Zarei-Ghanavati, S., Ramirez-Miranda, A., Deng, S., Limbal Lacunae, A New Limbal Structure Detected by in vivo Confocal Microscopy. Ophthalmic Surg Lasers Imaging. 2011 Dec 8;42:e129-31

Kurbanyan, K., Sejpal, K., Aldave, A., Deng S., In Vivo Confocal Microscopic Findings in Lisch Corneal Dystrophy, Cornea. 2012 Apr;31(4):437-41

Wang, L., Deng, S., Lu, L., Role of CTCF in EGF-induced Migration of Immortalized Human Corneal Epithelial Cells, IOVS, 2012 Feb 23;53(2):946-51

Sejpal, K., Bakhtiari, B., Deng, S., Presentation, Diagnosis and Management of Limbal Stem Cell Deficiency, MEAJO (Accepted)

Hua, M., Gonzalez, S., Deng, S., Extracellular matrix is an important component of limbal stem cell niche, J. Funct. Mater. (Submitted)


Prevent Blindness America, Investigator Award: Characterization and Staging of Limbal Stem Cell Deficiency using in vivo Confocal Laser Scanning Microscopy, 8/1/10-7/30/11

California Institute for Regenerative Medicine, Early Translational Research Award (PI): Regeneration of Functional Human Corneal Epithelial Progenitor Cells, 2/2011-1/2014

National Eye Institute R01 (PI): Ex Vivo Expansion of Limbal Stem Cells for Transplantation, 9/1/12-8/30/17