Catherine E Wheeldon

University of Auckland, Auckland, Auckland, New Zealand

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Publications (6)14.69 Total impact

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    ABSTRACT: To evaluate corneal tomographic features of keratoconus and associations between risk factors and disease phenotype in New Zealand. Departments of Ophthalmology, University of Auckland and Auckland District Health Board, Auckland, New Zealand. Clinic-based, cross-sectional study. The medical records and corneal tomography of patients attending a subspecialty service were reviewed. Data included age, sex, ethnicity, ocular history, family history, atopy, and eye rubbing. Orbscan II parameters included simulated keratometry, mean power, pachymetry, location of maximum power, anterior best-fit sphere (BFS) and posterior BFS. Morphology was categorized by the Rabinowitz topography classification. Final analyses included 532 eyes (266 patients; 144 men) with a mean age of 29.3 years ± 11.56 (SD). Maori and Pacific patients were overrepresented (P=.0001). Family history of keratoconus was associated with a lower mean corneal power (P=.01) and greater pachymetry (P=.03). Comparing patients with family history and patients with atopy, showed differences in thinnest-point pachymetry (mean: family history, 340 ± 15 μm; atopy 381 ± 8 μm) (P=.0218). Keratoconus was classified as severe (58.3%) or moderate (33.8%) on mean keratometry. Axial keratometric maps were predominantly asymmetric bow-tie (29%), round (18%), or inferior steepening (17%). Anterior elevation maps were classified as spur (49.3%), island (24%), irregular ridge (15%), or other (11.3%). Eighteen patients (12.5%) had complete enantiomorphism. Advanced keratoconus was largely asymmetric and differences in tomographic phenotype were associated with differing etiologic risk factors. Maori and Pacific ethnicities were overrepresented in this population.
    Journal of Cataract and Refractive Surgery 08/2011; 37(8):1493-501. · 2.75 Impact Factor
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    ABSTRACT: The corneal dystrophies represent a group of clinically and genetically heterogeneous, inherited diseases, often resulting in bilateral opacification of the cornea, and may require penetrating keratoplasty. Mutations in the transforming growth factor beta-induced (TGFBI) gene segregate with a wide range of phenotypically heterogeneous corneal dystrophies. Many of the other dystrophies remain without molecular characterisation. This study aimed to characterise the molecular basis for corneal disease in a New Zealand population. Nineteen unrelated individuals affected with a corneal dystrophy (granular, fleck, lattice, posterior polymorphous) and their family members were recruited, a pedigree obtained and their dystrophy extensively phenotyped. After informed consent, samples were taken for DNA extraction. PCR and sequencing of all coding exons of TGFBI was undertaken. All five patients with granular dystrophy had the R555W mutation, and H626P was identified in an intermediate dystrophy of Bowman layer pedigree. No other mutations were detected including in the stromal dystrophy cases. Mutational analysis of TGFBI in a small population has identified sequence changes consistent with previously identified genotype-phenotype correlations. A new genotype-phenotype association was also characterised. No mutations were identified in some individuals/pedigrees suggesting greater genetic heterogeneity than is currently known in this group of disorders.
    The British journal of ophthalmology 11/2009; 94(7):836-42. · 2.92 Impact Factor
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    ABSTRACT: With advances in phenotyping tools and availability of molecular characterization, an increasing number of phenotypically and genotypically diverse inherited corneal dystrophies are described. We aimed to determine the underlying causative genetic mechanism in a three-generation pedigree affected with a unique anterior membrane corneal dystrophy characterized by early onset recurrent corneal erosions, small discrete focal opacities at the level of Bowman layer and anterior stroma, anterior stromal flecks, and prominent corneal nerves. Twenty affected and unaffected members of a three-generation family were examined and extensively clinically characterized including corneal topography and in vivo confocal microscopy, and biological specimens were collected for DNA extraction. Mutational analysis of two corneal genes (TGFBI [Transforming Growth factor-beta induced] and ZEB1 [zinc finger E box-binding homeobox 1]) was undertaken, in addition to testing with the Asper Corneal Dystrophy gene chip (Asper Ophthalmics, Tartu, Estonia). Subsequent Genotyping To 11 Known Corneal Gene Loci (COL8A2 [Collagen, Type VIII, Alpha-2], TACSTD2 [Tumor-Associated Calcium Signal Transducer 2], PIP5K3 [Phosphatidylinositol-3-Phosphate 5-Kinase, Type III], GSN [Gelsolin], KERA [Keratocan], VSX1 [Visual System Homeobox Gene 1], COL6A1 [Collagen, Type VI, Alpha-1], MMP9 [Matrix Metalloproteinase 9], KRT3 [Keratin 3]), and two putative loci, 3p14-q13 and 15q22.33-24) was undertaken using polymorphic markers, and haplotypes constructed. Multipoint linkage analysis was performed to generate LOD scores and produce LOD plots across the candidate intervals. No pathogenic sequence variations were detected in TGFBI or ZEB1 of the proband nor on the Asper Corneal Dystrophy gene chip (302 mutations in 12 genes). Multipoint linkage analysis of 11 known corneal genes and loci generated negative LOD plots and was able to exclude all genes tested including PIP5K3. Exclusion of linkage to candidate corneal loci combined with an absence of pathogenic mutations in known corneal genes in this pedigree suggest a different genetic causative mechanism in this dystrophy than the previously documented corneal genes. This unique phenotype of an anterior membrane dystrophy may therefore provide an opportunity to identify a new gene responsible for corneal disease.
    Molecular vision 02/2009; 15:1700-8. · 1.99 Impact Factor
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    ABSTRACT: We report an unusual case of presumed late-onset unilateral diffuse lamellar keratitis of uncertain etiology in a 23-year-old man who presented with elevated intraocular pressure following uneventful laser in situ keratomileusis (LASIK). After treatment with topical corticosteroid therapy, the condition progressed to interface fluid syndrome. Isolated pockets of fluid were clearly demonstrated at the level of the LASIK flap interface on slitlamp biomicroscopy and in Pentacam Scheimpflug images.
    Journal of Cataract and Refractive Surgery 03/2008; 34(2):322-6. · 2.53 Impact Factor
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    ABSTRACT: Corneal dystrophy of Bowman's layer (CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene. CDB is further divided into a geographic variant (CDB1/Reis Bücklers, RBCD), and a honeycomb variant (CDB2/Thiel Behnke, TBCD). We undertook mutational analysis of TGFBI in a family with an unusual CDB variant and describe a novel phenotype-genotype association. Individuals from a pedigree with CDB underwent extensive phenotyping, including laser scanning in vivo confocal microscopy, and histological examination of four corneal buttons obtained at penetrating keratoplasty. Transmission electron microscopy of an excised allograft cornea from one affected individual was also performed. Following informed consent, DNA samples were collected. Polymerase chain reaction (PCR) and sequencing of all coding exons of TGFBI was performed. Family members were recruited with subsequent phenotyping and genotyping, and paternity testing. Clinical examination and other phenotypic information confirmed a diagnosis of CDB, with various features either more suggestive of CDB1 or of CDB2. A mutation in exon 14, H626P, segregated with the disease in this pedigree. This mutation was confirmed with NlaIII restriction enzyme digest, and was not seen in 100 control chromosomes. Within this pedigree, CDB segregates with an H626P mutation, which is previously described occurring in lattice corneal dystrophy. The majority of mutations in TGFBI previously described segregating with CDB1 and CDB2 are R124L and R555Q, respectively. Although a Bowman's layer dystrophy, the phenotype in this pedigree does not closely conform to the classical diagnostic criteria for either CDB1 or CDB2, and therefore represents a novel phenotype-genotype correlation.
    Molecular vision 02/2008; 14:1503-12. · 1.99 Impact Factor
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    ABSTRACT: We report a case of true exfoliation of the crystalline lens in a 53-year-old baker who presented with reduced vision due to cataract. Phacoemulsification cataract surgery with intraocular lens implantation was performed, and the anterior capsule was analyzed histologically. Preoperative clinical and anterior segment optical coherence tomography observations are presented, with a description of the modified phacoemulsification technique and histopathology. A possible mechanism of pathogenesis is proposed in the context of the histopathology.
    Journal of Cataract and Refractive Surgery 04/2007; 33(4):735-8. · 2.53 Impact Factor