Research Topics
Genomes and GenesSpecies | Anthony J AldaveSummaryAffiliation: University of California Country: USA Publications
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Publications
The genetics of the corneal dystrophiesAnthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine, The University of California, Los Angeles, CA, USA
Dev Ophthalmol 48:51-66. 2011....- Report of the Eye Bank Association of America medical advisory board subcommittee on fungal infection after corneal transplantationAnthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Cornea 32:149-54. 2013..To investigate the incidence of fungal infections after corneal transplantation to determine whether storage media supplementation with an antifungal should be considered... - International results with the Boston type I keratoprosthesisAnthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
Ophthalmology 119:1530-8. 2012.... 
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasisAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA
Cornea 24:112-5. 2005..To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy...- Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophyAnthony J Aldave
Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, CA, USA
Mol Vis 11:713-6. 2005..To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients... 
Primary graft failure associated with epithelial downgrowth: a case reportAnthony J Aldave
Department of Ophthalmology, The University of California, San Francisco, California, USA
BMC Ophthalmol 5:11. 2005..We report a case of primary corneal graft failure (PGF) associated with retrocorneal epithelial cell ingrowth...- A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) geneAnthony J Aldave
Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Ophthalmology 112:1017-22. 2005..To report a unique corneal dystrophy characterized by deposits at Bowman's layer and stromal lattice lines associated with the Gly623Asp missense mutation in the transforming growth factor beta-induced (TGFBI) gene... - Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal herniaAnthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Am J Med Genet A 143:2549-56. 2007..In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias... 
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI geneAnthony J Aldave
Jules Stein Eye Institute, University of California, Los Angeles, CA 90095, USA
Arch Ophthalmol 126:371-7. 2008..To report a novel mutation in TGFBI (GenBank NM_000358), p.Met619Lys, associated with a variant of combined granular-lattice corneal dystrophy...- Candidate gene screening for posterior polymorphous dystrophyAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Cornea 24:151-5. 2005..The initial 3 genes chosen, ID1, BCL2L1, and VSX1, lie within the region on chromosome 20 to which the PPCD gene has been linked, and mutations in VSX1 have previously been identified in patients with PPCD... - A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophyAnthony J Aldave
Jules Stein Eye Institute, The University of California Los Angeles Medical Center, Los Angeles, California 90095, USA
Am J Ophthalmol 143:416-9. 2007.... - Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI geneAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, CA, USA
Mol Vis 12:142-6. 2006..To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD)... - No pathogenic mutations identified in the TGFBI gene in polymorphic corneal amyloid depositionAnthony J Aldave
Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, CA 90095, USA
Cornea 25:413-5. 2006..To determine whether primary, polymorphic, corneal amyloid deposition is associated with a mutation of the TGFBI gene... - No VSX1 gene mutations associated with keratoconusAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
Invest Ophthalmol Vis Sci 47:2820-2. 2006..To determine whether mutations of the VSX1 gene play a pathogenetic role in the development of keratoconus (KTCN)... - Corneal copper deposition associated with chronic lymphocytic leukemiaAnthony J Aldave
The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA
Am J Ophthalmol 142:174-6. 2006..To report a case of corneal copper deposition associated with chronic lymphocytic leukemia (CLL)... - No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophyAnthony J Aldave
Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, Los Angeles, California 90095, USA
Invest Ophthalmol Vis Sci 47:3787-90. 2006.... - Keratoconus is not associated with mutations in COL8A1 and COL8A2Anthony J Aldave
Jules Stein Eye Institute, University of California, Los Angeles, CA, USA
Cornea 26:963-5. 2007..To evaluate the suggested role of the COL8A1 and COL8A2 genes in the pathogenesis of the corneal ectatic disorders keratoconus and keratoglobus through mutation screening in affected patients... - Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11Anthony J Aldave
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Cornea 26:896-900. 2007..To determine the genetic basis of autosomal recessive congenital hereditary endothelial dystrophy (CHED2) in an American patient of Chinese ancestry... - The Boston type I keratoprosthesis: improving outcomes and expanding indicationsAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
Ophthalmology 116:640-51. 2009..To report the usefulness of the Boston type I keratoprosthesis (Massachusetts Eye and Ear Infirmary, Boston, MA) in the management of corneal opacification, corneal limbal stem cell failure, or both in a large single-surgeon series... - Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene intervalAnthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Cornea 28:801-7. 2009..We sought to identify the genetic basis of PPCD linked to chromosome 20 (PPCD1) by screening the 26 positional candidate genes between these markers in a family previously mapped to the PPCD1 region... - Central discoid corneal dystrophyAnthony J Aldave
Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095, USA
Cornea 21:739-44. 2002..To present a small kindred with a unique dominantly inherited corneal stromal dystrophy... - A novel technique for harvesting keratolimbal allografts from corneoscleral buttonsAnthony J Aldave
Department of Ophthalmology, University of California, San Francisco Francis I Proctor Foundation, San Francisco, California, USA
Am J Ophthalmol 134:929-31. 2002..To describe a method for obtaining partial-thickness keratolimbal allografts from corneoscleral buttons to be used in corneal limbal stem cell transplantation... - Spontaneous corneal hydrops and perforation in keratoconus and pellucid marginal degenerationAnthony J Aldave
Department of Ophthalmology, Francis I Proctor Foundation, University of California San Francisco, San Francisco, CA, USA
Cornea 22:169-74. 2003..To report two cases of pellucid marginal degeneration and one case of keratoconus associated with spontaneous corneal hydrops leading either to perforation or imminent perforation, requiring urgent keratoplasty... - Peripheral keratitis associated with erythema elevatum diutinumAnthony J Aldave
Department of Ophthalmology, University of California, San Francisco Francis I Proctor Foundation, San Francisco, California, USA
Am J Ophthalmol 135:389-90. 2003..To describe a case of peripheral keratitis associated with erythema elevatum diutinum (EED), an unusual immune-complex-mediated cutaneous vasculitis... - Atypical vortex pattern of corneal deposits in granular corneal dystrophyAnthony J Aldave
Cornea Service, Department of Ophthalmology, The Jules Stein Eye Institute, The University of California, Los Angeles 90095, USA
Cornea 22:754-9. 2003..To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy... - Descemet stripping endothelial keratoplasty after Ophtec 311 iris reconstruction lens implantationAnthony J Aldave
Jules Stein Eye Institute and the Department of Ophthalmology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, CA, USA
Cornea 30:405-8. 2011..To describe the variations in intraoperative technique, postoperative complications, and visual outcomes associated with Descemet stripping endothelial keratoplasty (DSEK) after Ophtec iris reconstruction lens implantation... - Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophyAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Am J Ophthalmol 137:465-73. 2004..To further characterize the mutations within the CHST6 gene responsible for causing macular corneal dystrophy in a cohort of affected patients from the United States... - Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosionsAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, 90095, USA
Am J Ophthalmol 137:1124-7. 2004..To report the utility of genetic testing in the diagnosis and management of patients with suspected corneal dystrophies... - The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophiesAnthony J Aldave
Department of Ophthalmology, The University of California, San Francisco Francis I Proctor Foundation, San Francisco, California 90095, USA
Ophthalmology 111:1407-9. 2004.... - Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYCAnthony J Aldave
Jules Stein Eye Institute, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA
Invest Ophthalmol Vis Sci 51:4006-12. 2010..To identify the genetic basis of posterior amorphous corneal dystrophy (PACD) segregating in a large pedigree... - Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI geneAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA
Am J Ophthalmol 138:772-81. 2004..To report a phenotypic variant of lattice corneal dystrophy associated with two missense changes, Ala546Asp and Pro551Gln, in the transforming growth factor-beta-induced gene (TGFBI)... - Epithelial debridement and Bowman's layer polishing for visually significant epithelial irregularity and recurrent corneal erosionsAnthony J Aldave
Jules Stein Eye Institute, The David Geffen School of Medicine at the University of California, Los Angeles, 90095, USA
Cornea 28:1085-90. 2009.... - Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2Anthony J Aldave
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
Ophthalmic Genet 28:57-67. 2007.... - Graft failure after penetrating keratoplasty in eyes with Ahmed valvesDavid A Hollander
Jules Stein Eye Institute and Department of Ophthalmology, David Geffen School of Medicine at UCLA, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095 7004, USA
Am J Ophthalmol 150:169-78. 2010..To determine incidence and risk factors for graft failure following penetrating keratoplasty (PK) in eyes with Ahmed valves (AV)... - An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutationVivek S Yellore
Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
Ophthalmic Genet 28:169-74. 2007..To report an unusual phenotype of macular corneal dystrophy (MCDC1) associated with a novel CHST6 mutation transmitted via maternal isodisomy... - Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophyVivek S Yellore
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095, USA
Mol Vis 13:1777-82. 2007..To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening positional candidate genes and UBIAD1, in which mutations have been associated with SCCD, in affected families... - Keratoconus associated with corneal stromal amyloid deposition containing TGFBIpTak Yee Tania Tai
The Jules Stein Eye Institute, David Geffen School of Medicine, The University of California at Los Angeles, Los Angeles, CA 90095, USA
Cornea 28:589-93. 2009..To report the identification and characterization of stromal amyloid deposits in patients with keratoconus... - Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutationKhairidzan M Kamal
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Cornea 28:97-8. 2009.... - Outcomes after Descemet stripping endothelial keratoplasty in glaucoma patients with previous trabeculectomy and tube shunt implantationChristophe Wiaux
Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Cornea 30:1304-11. 2011..To describe the incidence of intraoperative and postoperative complications and visual outcomes in eyes with previous penetrating glaucoma surgery undergoing Descemet stripping endothelial keratoplasty (DSEK)... - No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophyVivek S Yellore
Jules Stein Eye Institute, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
Invest Ophthalmol Vis Sci 46:1599-603. 2005.... - The Boston keratoprosthesis in the management of corneal limbal stem cell deficiencyKunjal Sejpal
Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA
Cornea 30:1187-94. 2011..To report the outcomes of the Boston type I keratoprosthesis (Massachusetts Eye and Ear Infirmary, Boston, MA) in the management of corneal limbal stem cell deficiency (LSCD)... - Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20Vivek S Yellore
Cornea Service, The Jules Stein Eye Institute, Department of Human Genetics, and Retinal Biochemistry Laboratory, David Geffen School of Medicine at University of California Los Angeles, California 90095, USA
Genet Med 9:228-34. 2007..Glaucoma also develops in up to 40% of patients with posterior polymorphous corneal dystrophy... - Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern IndiaJohn F Warren
Francis I Proctor Foundation and the Department of Ophthalmology, University of California San Francisco, 94143 0944, USA
Arch Ophthalmol 121:1608-12. 2003..To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India... - Characterization of limbal stem cell deficiency by in vivo laser scanning confocal microscopy: a microstructural approachSophie X Deng
Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA
Arch Ophthalmol 130:440-5. 2012..To evaluate the cellular changes in the corneal epithelium and surrounding structures in limbal stem cell deficiency (LSCD) by using in vivo laser scanning confocal microscopy... - Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophyVivek S Yellore
Jules Stein Eye Institute, David Geffen School of Medicine at the University of California, Los Angeles, California, USA
Invest Ophthalmol Vis Sci 53:273-8. 2012..To determine how nonsense mutations in the transcription factor ZEB1 lead to the development of posterior polymorphous corneal dystrophy type 3 (PPCD3)... - Binocular visual function in patients with Boston type I keratoprosthesesStacy L Pineles
Department of Ophthalmology and Jules Stein Eye Institute, University of California, Los Angeles, CA, USA
Cornea 29:1397-400. 2010..To report the postoperative binocular function of patients with Boston type I keratoprostheses implantation for unilateral visual impairment... - Macular hemorrhage after laser in situ keratomileusis (LASIK) with femtosecond laser flap creationAlexandre H Principe
Cornea Service, Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA
Am J Ophthalmol 138:657-9. 2004.... - Epithelial downgrowth following surgery for congenital glaucomaJoann A Giaconi
Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Am J Ophthalmol 138:1075-7. 2004..CONCLUSIONS: Epithelial downgrowth is a rare complication of surgery for glaucoma, but because of its potential to threaten sight it should always be considered as a possible complication... - Drug-induced corneal complicationsDavid A Hollander
The Cornea Service, Jules Stein Eye Institute, The University of California, Los Angeles, California 90095, USA
Curr Opin Ophthalmol 15:541-8. 2004..While corneal deposition is typically not an indication for drug cessation, patients receiving particular medications should be monitored for symptoms related to corneal deposition as well as for signs of irreversible ocular toxicity... - Microbiologic and histopathologic assessment of corneal biopsies in the evaluation of microbial keratitisJared R Younger
Ocular Inflammatory Disease Center, Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095 7003, USA
Am J Ophthalmol 154:512-519.e2. 2012.... - Amniotic membrane transplantation with anterior stromal micropuncture for treatment of painful bullous keratopathy in eyes with poor visual potentialBaris Sonmez
The Jules Stein Eye Institute, University of California, Los Angeles Medical Center, Los Angeles, CA 90095, USA
Cornea 26:227-9. 2007..To report the use of anterior stromal micropuncture and amniotic membrane transplantation in the management of painful bullous keratopathy in patients with poor visual potential... - TGFB1-induced extracellular expression of TGFBIp and inhibition of TGFBIp expression by RNA interference in a human corneal epithelial cell lineVivek S Yellore
Jules Stein Eye Institute, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA
Invest Ophthalmol Vis Sci 52:757-63. 2011.... - Late-onset traumatic flap dislocation and diffuse lamellar inflammation after laser in situ keratomileusisAnthony J Aldave
Department of Ophthalmology, The University of California San Francisco, San Francisco, California, U S A
Cornea 21:604-7. 2002..To report a case of traumatic flap partial dislocation and subsequent diffuse lamellar inflammation 14 months after laser in situ keratomileusis (LASIK) retreatment... - In vivo confocal microscopic findings in Lisch corneal dystrophyKristina Kurbanyan
Cornea and Uveitis Division, Jules Stein Eye Institute, University of California, Los Angeles, CA 90095, USA
Cornea 31:437-41. 2012..To describe the in vivo confocal microscopic and clinicopathologic correlations in Lisch corneal dystrophy... - Histopathological analysis of the cornea after laser in situ keratomileusisJ Brooks Crawford
Department of Ophthalmology, University of California, San Francisco, 94143, USA
Arch Ophthalmol 121:896-8. 2003 - The IC3D classification of the corneal dystrophiesJayne S Weiss
Department of Ophthalmology, Kresge Eye Institute, Wayne State University School of Medicine, Detroit, MI 48201, USA
Cornea 27:S1-83. 2008..Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis... - Management of prominent iris vascular tufts causing recurrent spontaneous hyphemaErich C Strauss
Francis I Proctor Foundation and Department of Ophthalmology, University of California San Francisco, San Francisco, California 94143 0944, USA
Cornea 24:224-6. 2005..To report the management of recurrent, spontaneous hyphema associated with florid iris vascular tufts in a patient presenting for cataract surgery... - Epstein-Barr virus-associated smooth muscle tumor of the iris in a patient with transplant: a case report and review of the literatureLe Yu
Jules Stein Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, 10833 Le Conte Ave, Los Angeles, CA 90095, USA
Arch Pathol Lab Med 133:1238-41. 2009..Eight months after total iridectomy the patient was free of disease. Although the prognosis and classification of Epstein-Barr virus-associated smooth muscle tumors are controversial, mortalities caused by these tumors are rare... - The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locusIsabella N Lai
The Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90095, USA
Mol Vis 16:2829-38. 2010..To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation... - Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?Anthony J Aldave
Cornea Service, Jules Stein Eye Institute, University of California Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095, USA
Arch Ophthalmol 125:177-86. 2007.... - Postoperative posterior segment complications in eyes treated with the Boston type I keratoprosthesisDarin R Goldman
Retina Division Cornea Division Glaucoma Division, Jules Stein Eye Institute, David Geffen School of Medicine, UCLA, Los Angeles, California
Retina 33:532-41. 2013..To describe the incidence, timing, visual significance, and management of posterior segment complications after Boston type I keratoprosthesis implantation... - VSX1 mutation and corneal dystrophiesAnthony J Aldave
Ophthalmology 112:170-1; author reply 171-2. 2005 - Ocular surface toxicity associated with topical interferon alpha-2bAnthony J Aldave
Br J Ophthalmol 91:1087-8. 2007 - Spontaneous corneal hydrops and perforation in both eyes of a patient with pellucid marginal degenerationBennie H Jeng
Cornea 22:705-6. 2003 - Classification of the corneal dystrophiesAnthony J Aldave
Arch Ophthalmol 126:747. 2008 - Examination of affected relatives and molecular genetic analysis are best means to differentiate between early granular and combined granular-lattice corneal dystrophiesAnthony J Aldave
Cornea 21:735-6. 2002 - Late calcific deposition on the hydrophilic acrylic MemoryLensAnthony J Aldave
J Cataract Refract Surg 31:1681. 2005
Research Grants
- Cloning/Gene/Posterior Polymorphous corneal dystrophyANTHONY ALDAVE; Fiscal Year: 2007....