Ophthalmology, Eye and Vision Research Collected Works
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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort
(Wiley, 2020-05)Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos ... -
An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity
(Elsevier, 2020-01)Purpose To examine the combined effects of common genetic variants associated with intraocular pressure (IOP) on primary open-angle glaucoma (POAG) phenotype using a polygenic risk score (PRS) stratification. Design ... -
Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma
(Elsevier, 2020-01)Purpose Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function recently associated with ocular anterior segment ... -
Intraocular Chemotherapy for Vitreoretinal Lymphoma: a review
(Wiley, 2019-11-03)Vitreoretinal lymphomas are rare ocular cancers, and the subset of primary central nervous system lymphomas that are based in the posterior eye. These tumours are challenging to treat, and today management generally involves ... -
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
(Wiley, 2019-08-01)Background: CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). Methods: We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. ... -
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF
(Molecular Vision, 2019-09-21)Purpose: Nanophthalmos is a rare subtype of microphthalmia associated with high hyperopia and an increased risk of angle-closure glaucoma. We investigated the genetic cause of nanophthalmos and high hyperopia in an autosomal ... -
Intracameral antibiotics for prophylaxis of post operative endophthalmitis in Australia : comment
(Wiley, 2019-10-01)We read with interest the article by Lipsky and Barrett and concur that intracameral moxifloxacin is a safer and more efficacy alternative to vancomycin as evidence emerges of postoperative haemorrhagic ... -
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
(Elsevier, 2019-04-04)The evidence base supporting genetic and genomic sequence-variant interpretations is continuously evolving. An inherent consequence is that a variant’s clinical significance might be reinterpreted over time as new evidence ... -
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent
(Public LIbrary of Science, 2018-06-20)Many genes have been suggested as candidate genes for keratoconus based on their function, their proximity to associated polymorphisms or due to the identification of putative causative variants within the gene. However, ... -
Influence of the time of day on axial length and choroidal thickness changes to hyperopic and myopic defocus in human eyes
(Elsevier, 2019-03-26)Research in animal models have shown that exposing the eye to positive or negative spectacle lenses can lead to predictable changes in eye growth. Recent research indicates that brief periods (1–2 h) of monocular defocus ... -
Macular GCIPL loss precedes peripapillary RNFL loss in glaucoma with lower intraocular pressure
(Elsevier, 2019-03-22)Purpose To investigate which clinical measures influence whether an individual demonstrates earliest glaucomatous structural progression on peripapillary retinal nerve fibre layer (pRNFL) or macular ganglion cell-inner ... -
Genetic polymorphism of the methotrexate transporter ABCG2, blood pressure and markers of arterial function in patients with rheumatoid arthritis: repeated cross-sectional study
(Dove Press, 2018-11-12)Purpose: Methotrexate (MTX) treatment is associated with lower blood pressure (BP) and arterial stiffness in rheumatoid arthritis (RA). We investigated associations between single-nucleotide polymorphism (SNP) of the ... -
Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance
(Public Library of Science, 2018-12-05)Purpose The ganglion cell analysis (GCA) of the CIRRUSTM HD-OCT (Carl Zeiss, Meditec; Dublin, CA) provides measurement of the macular ganglion cell-inner plexiform layer (GCIPL) thickness. This study determined the ... -
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
(Springer Nature, 2018-05-14)Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. ... -
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma
(American Medical Association, 2019-01-17)Importance Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly ... -
Lack of cone mediated retinal function increases susceptibility to form-deprivation myopia in mice
(Elsevier, 2018-12-31)Retinal photoreceptors are important in visual signaling for normal eye growth in animals. We used Gnat2cplf3/cplf3 (Gnat2−/−) mice, a genetic mouse model of cone dysfunction to investigate the influence of cone signaling ... -
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation
(Taylor & Francis Group, 2019-01-02)Purpose: Stability of the crystalline lens requires formation of microfibril bundles and their higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the ciliary zonules can lead to dislocation ... -
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy
(Molecular Vision, 2018-07-21)Purpose Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in ... -
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka
(Wiley, 2018-04-05)Background: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous ... -
Identification and In Vitro Expansion of Buccal Epithelial Cells
(SAGE Publications, 2018-06-01)Ex vivo-expanded buccal mucosal epithelial (BME) cell transplantation has been used to reconstruct the ocular surface. Methods for enrichment and maintenance of BME progenitor cells in ex vivo cultures may improve the ...
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