125 results match your criteria: "The Jules Stein Eye Institute[Affiliation]"
Keratoconus associated with corneal stromal amyloid deposition containing TGFBIp.
Cornea
June 2009
The Jules Stein Eye Institute, David Geffen School of Medicine, The University of California at Los Angeles, Los Angeles, CA 90095, USA.
Purpose: To report the identification and characterization of stromal amyloid deposits in patients with keratoconus.
Methods: The excised corneal buttons from 2 patients diagnosed clinically with keratoconus underwent histochemical analysis with Masson trichrome, Congo red, Alcian blue, and periodic acid-Schiff stains, and immunohistochemical analysis for the transforming growth factor beta-induced gene (TGFBI) protein product (TGFBIp), prealbumin, lysozyme, and kappa and lambda light chain expression. After the collection of DNA from both patients, exons 4, 11, 12, 13 and 14 of TGFBI were amplified and sequenced to search for mutations previously associated with dystrophic corneal stromal amyloid deposition.
The use of voriconazole in the management of post-penetrating keratoplasty Paecilomyces keratitis.
J Ocul Pharmacol Ther
April 2009
The Jules Stein Eye Institute, University of California, Los Angeles, California, USA.
Purpose: The aim of this study was to report successful treatment of Paecilomyces lilacinus keratitis with voriconazole.
Method: Case series.
Results: Two patients with history of penetrating keratoplasty (PKP) presented with progressive P.
The Boston type I keratoprosthesis: improving outcomes and expanding indications.
Ophthalmology
April 2009
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Purpose: 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.
Design: Retrospective review of consecutive clinical case series.
Participants: All patients undergoing keratoprosthesis implantation by a single surgeon (AJA) between May 1, 2004, and May 31, 2008.
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.
Cornea
January 2009
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Purpose: The purpose of this study was to report the association of phenotypic features characteristic of lattice corneal dystrophy (LCD) with a monoclonal gammopathy of undetermined significance (MGUS) after exclusion of a coding region mutation in transforming growth factor beta-induced (TGFBI) gene.
Design: Case report.
Methods: Slit-lamp examination and collection of DNA for TGFBI screening were performed.
Characteristics of untreated AIDS-related cytomegalovirus retinitis. II. Findings in the era of highly active antiretroviral therapy (1997 to 2000).
Am J Ophthalmol
January 2008
Ocular Inflammatory Disease Center, the Jules Stein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Purpose: To describe host characteristics (use of highly active antiretroviral therapy [HAART]; CD4+ T-lymphocyte count; HIV ribonucleic acid [RNA] blood level) of people who were diagnosed with AIDS-related cytomegalovirus (CMV) retinitis after HAART became available and to investigate effects of HAART on ophthalmic findings.
Design: Retrospective, observational case series.
Methods: We collected demographic, medical, laboratory, and ophthalmic data for all patients with AIDS and newly diagnosed, untreated CMV retinitis from January 1997 through December 2000 at 10 sites in Los Angeles and Orange Counties, California.
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.
Mol Vis
September 2007
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095, USA.
Purpose: 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.
Methods: The coding region of each of the 16 positional candidate genes for which mutation screening has not been previously reported was screened with polymerase chain reaction (PCR) amplification and automated sequencing in four affected individuals from two families with SCCD. In addition, the coding region of UBIAD1, located just outside of the originally described SCCD candidate interval on chromosome 1p36, was directly sequenced in affected and unaffected individuals from three families with SCCD.
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.
Am J Med Genet A
November 2007
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Mutations in the two-handed zinc-finger homeodomain transcription factor gene (TCF8) have been associated with posterior polymorphous corneal dystrophy (PPCD) and extraocular developmental abnormalities. We performed screening of TCF8 in 32 affected, unrelated probands, affected and unaffected family members of probands identified with a TCF8 mutation, and in 100 control individuals. Eight different pathogenic mutations were identified in eight probands: four frameshift (c.
View Article and Find Full Text PDFAutosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.
Cornea
August 2007
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
Purpose: To determine the genetic basis of autosomal recessive congenital hereditary endothelial dystrophy (CHED2) in an American patient of Chinese ancestry.
Methods: Slit-lamp examination of the proband and his parents, as well as histopathologic examination of excised corneal specimens from the proband, were performed to confirm the diagnosis of autosomal recessive CHED. DNA was collected from the proband and his parents, and all 19 exons of the SLC4A11 gene were amplified and screened.
Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
Ophthalmic Genet
June 2007
The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Purpose: To determine the genetic basis of autosomal dominant cornea plana (CNA1) through the performance of a genome-wide linkage analysis and screening of the decorin (DCN), dermatan sulfate proteoglycan 3 (DSPG3), forkhead box C1 (FOXC1), keratocan (KERA), lumican (LUM,) and paired-like homeodomain transcription factor 2 (PITX2) genes in members of an affected multigenerational family.
Methods: Cycloplegic refraction, slit lamp biomicroscopy, corneal pachymetry, and corneal topography were performed to determine each patient's affected status. DNA was obtained from affected and unaffected subjects for the performance of a genome-wide linkage analysis as well as PCR amplification and sequencing of DCN, DSPG3, FOXC1, KERA, LUM, and PITX2.
Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20.
Genet Med
April 2007
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.
Purpose: The study purpose was to identify the genetic basis of posterior polymorphous corneal dystrophy, an autosomal dominant disorder of the corneal endothelium that is associated with the development of corneal edema, necessitating corneal transplantation for visual rehabilitation. Glaucoma also develops in up to 40% of patients with posterior polymorphous corneal dystrophy.
Methods: Linkage analysis, using microsatellite markers previously used to demonstrate linkage of posterior polymorphous corneal dystrophy to the chromosome 20 candidate region known as posterior polymorphous corneal dystrophy 1, was performed in 29 members of a family with posterior polymorphous corneal dystrophy.
Amniotic membrane transplantation with anterior stromal micropuncture for treatment of painful bullous keratopathy in eyes with poor visual potential.
Cornea
February 2007
The Jules Stein Eye Institute, University of California, Los Angeles Medical Center, Los Angeles, CA 90095, USA.
Purpose: 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.
Methods: Interventional case series. A retrospective review was performed to identify all patients who were treated by one of us (A.
Identification of scanning slit-beam topographic parameters important in distinguishing normal from keratoconic corneal morphologic features.
Am J Ophthalmol
March 2007
The Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California 90095, USA.
Purpose: To identify morphologic parameters obtained using scanning slit-beam topography that help distinguish normal from keratoconic corneal morphologic features.
Design: Observational, retrospective, cross-sectional study.
Methods: This retrospective review examined 207 normal eyes of patients undergoing an initial consultation for primary refractive surgery and 42 eyes with clinical keratoconus (KCN).
25-Gauge pars plicata vitrectomy for stage 4 and 5 retinopathy of prematurity.
Retina
September 2006
The Jules Stein Eye Institute, Department of Ophthalmology, University of California at Los Angeles, David Geffen School of Medicine, California 90095, USA.
Purpose: To describe the authors' technique and initial experience using the 25-gauge vitrectomy system for stage 4 and 5 tractional retinal detachment in retinopathy of prematurity (ROP).
Methods: Consecutive patients with stage 4 or 5 ROP treated with 25-gauge vitrectomy surgery between July 2003 and May 2004 were studied retrospectively. Eyes with prior vitrectomy surgery were excluded.
Corneal copper deposition associated with chronic lymphocytic leukemia.
Am J Ophthalmol
July 2006
The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA.
Purpose: To report a case of corneal copper deposition associated with chronic lymphocytic leukemia (CLL).
Design: Case report.
Methods: A 65-year-old woman with a history of CLL was diagnosed with bilateral corneal opacification.
No VSX1 gene mutations associated with keratoconus.
Invest Ophthalmol Vis Sci
July 2006
Cornea Service, The Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
Purpose: To determine whether mutations of the VSX1 gene play a pathogenetic role in the development of keratoconus (KTCN).
Methods: DNA extraction, PCR amplification, and direct sequencing of the VSX1 gene were performed in 100 unrelated patients with diagnoses of clinical and topographic features of KTCN.
Results: Of the four previously identified presumed pathogenic mutations in the VSX1 gene (Leu17Pro, Asp144Glu, Leu159Met, and Arg166Trp), only Asp144Glu was identified in a single affected patient.
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene.
Mol Vis
February 2006
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, CA, USA.
Purpose: To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD).
View Article and Find Full Text PDFThe role of RPE65 in inherited retinal diseases.
Retina
December 2005
Ophthalmology at the Jules Stein Eye Institute of the University of California, Neurobiology and Retinal Cell Biology Laboratory, Los Angeles, CA, USA.
Retinal researchers have reasons to be optimistic.
Retina
December 2005
Ophthalmology at the Jules Stein Eye Institute of the University of California, Neurobiology and Retinal Cell Biology Laboratory in Los Angeles, CA, USA.
Ciliary neurotrophic factor therapy for inherited retinal diseases: pros and cons.
Retina
December 2005
Ophthalmology at the Jules Stein Eye Institute of the University of California, Neurobiology and Retinal Cell Biology Laboratory in Los Angeles, CA, USA.
Cellular mechanisms of retinal degenerations: RPE65, ABCA4, RDS, and bicarbonate transporter genes as examples.
Retina
December 2005
Ophthalmology at the Jules Stein Eye Institute of the University of California, Neurobiology and Retinal Cell Biology Laboratory, Los Angeles, CA, USA.
Contact lens care in keratoconus.
Cont Lens Anterior Eye
December 2003
Department of Ophthalmology, The Jules Stein Eye Institute, The David Geffen School of Medicine at UCLA, 100 Stein Plaza, Los Angeles, CA 90095-7003, USA.
Purpose: To quantify the complexity involved in fitting contact lenses on the eyes of patients with keratoconus.
Methods: The contact lens care of one randomly selected eye each of 38 keratoconus patients was retrospectively analyzed and compared to that of 38 gender and age matched controls. We evaluated the number of diagnostic contact lenses used to establish the initial contact lens order, number of ordered rigid gas permeable (RGP) contact lenses needed to complete the fit, number of office visits during the initial 4 months of care, best spectacle and RGP contact lenses corrected Log MAR visual acuities, complications encountered, and whether or not the patient was successful in contact lens wear.
Candidate gene screening for posterior polymorphous dystrophy.
Cornea
March 2005
Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA.
Purpose: To perform candidate gene screening for posterior polymorphous corneal dystrophy (PPCD). 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.
Methods: DNA extraction, PCR amplification, and direct sequencing of the VSX1, BCL2L1, and ID1 genes were performed in 14 affected patients (12 families) as well as in unaffected family members and healthy control subjects.
Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis.
Cornea
January 2005
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA.
Purpose: 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.
Methods: Case report and review of the literature. A 30-year-old man with a history of chronic ocular irritation was found to have distichiasis, epiblepharon, and unilateral corneal amyloidosis indistinguishable from lattice corneal dystrophy.
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
Am J Ophthalmol
November 2004
Cornea Service, The Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095, USA.
Purpose: 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).
Design: Experimental study.
Methods: Genomic DNA was obtained from the proband as well as affected and unaffected family members.
Surveillance of the eye and vision in a clinical trial of MART1-transformed dendritic cells for metastatic melanoma.
Control Clin Trials
August 2004
Department of Ophthalmology, and the Jules Stein Eye Institute, and the UCLA Jonsson Comprehensive Cancer Center, University of California at Los Angeles, 100 Stein Plaza, Los Angeles, CA 90095-7000, USA.
Purpose: To report the protocol for surveillance of the eye and vision in a clinical trial of MART1-transduced dendritic cells for metastatic melanoma.
Methods: In a phase I/II clinical trial of dendritic cell-based genetic immunotherapy for metastatic cutaneous melanoma, ophthalmic evaluation is performed prior to immunization (Baseline Evaluation), 56+/-7 days after first vaccination (mid-study evaluation), when dendritic cell injections are complete 112+/-7 days after first vaccination (end-study evaluation) and 168+/-7 days after first vaccination (post-study evaluation).
Results: The protocol for baseline, mid-study and end-study evaluations of the eye and vision includes ophthalmic history, comprehensive ophthalmic examination, psychophysical and electrophysiological visual function assessment, fundus photography and fluorescein angiography.