ORCID Profile
0000-0003-3131-9359
Current Organisations
Melbourne Children's Eye Clinic
,
Centre for Eye Research Australia
,
Royal Children's Hospital
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Publisher: American Society for Microbiology
Date: 07-01-2021
DOI: 10.1128/MRA.01213-20
Abstract: Nannizziopsis barbata is an emerging fungal pathogen capable of causing contagious dermatomycosis in reptiles. Here, we report a 31.54-Mb draft genome sequence of an isolate originating from an infected eastern water dragon in Brisbane, Australia.
Publisher: American Medical Association (AMA)
Date: 2022
Publisher: Springer Science and Business Media LLC
Date: 18-02-2025
Publisher: Wiley
Date: 28-07-2004
Publisher: Elsevier BV
Date: 02-2015
DOI: 10.1016/J.JAAPOS.2014.08.013
Abstract: We present a case of a child with unilateral group E retinoblastoma (according to the International Classification of Retinoblastoma) who received superselective intra-arterial chemotherapy as primary therapy. Although the tumor showed signs of regression, the patient developed orbital metastases requiring surgical excision and chemotherapy. Eventually the affected eye progressed to total retinal detachment and required enucleation.
Publisher: Springer Science and Business Media LLC
Date: 12-10-2017
Publisher: BMJ
Date: 09-2021
DOI: 10.1136/BMJOPHTH-2021-000760
Abstract: To explore living with heritable retinoblastoma, specifically survivors’ perceived role of regular follow-up at a retinoblastoma survivorship clinic. Adult survivors of heritable retinoblastoma were recruited from the Retinoblastoma Survivorship Clinic, Aarhus University Hospital. Ten survivors participated in in idual explorative, semistructured interviews. Thematic data analysis was conducted. Five key themes relating to vision, social life, family, second cancer risk and the healthcare system were identified. Subthemes relating to the Retinoblastoma Survivorship Clinic included the retinoblastoma coordinator, cancer risk, psychosocial support and genetic knowledge. The retinoblastoma-related physical and psychosocial issues influenced survivors’ everyday living however, the opportunity to live a normal life varied considerably, with the majority experiencing no major limitations. The need for specialised management and a coordinator was emphasised to be the main value of the Retinoblastoma Survivorship Clinic. Despite reporting an overall normal life and no major limitations in daily living activities, our data confirm that heritable retinoblastoma impacts several aspects of daily living. Uniquely, this study demonstrates that the main value of the Retinoblastoma Survivorship Clinic was a specialised contact person and coordinator in the healthcare system, providing continuous and necessary management and guidance after retinoblastoma treatment, and for all aspects of health related to heritable retinoblastoma. The needs of heritable retinoblastoma survivors are complex and extensive, and the specific role of the healthcare system to support survivorship should be prioritised, specialised and multidisciplinary.
Publisher: Springer Science and Business Media LLC
Date: 16-07-2021
DOI: 10.1038/S41433-021-01675-Y
Abstract: To investigate in a large global s le of patients with retinoblastoma whether sex predilection exists for this childhood eye cancer. A cross-sectional analysis including 4351 treatment-naive retinoblastoma patients from 153 countries who presented to 278 treatment centers across the world in 2017. The sex ratio (male/female) in the s le was compared to the sex ratio at birth by means of a two-sided proportions test at global level, country economic grouping, continent, and for selected countries. For the entire s le, the mean retinoblastoma sex ratio, 1.20, was higher than the weighted global sex ratio at birth, 1.07 ( p 0.001). Analysis at economic grouping, continent, and country-level demonstrated differences in the sex ratio in the s le compared to the ratio at birth in lower-middle-income countries ( n = 1940), 1.23 vs. 1.07 ( p = 0.019) Asia ( n = 2276), 1.28 vs. 1.06 ( p 0.001) and India ( n = 558), 1.52 vs. 1.11 ( p = 0.008). Sensitivity analysis, excluding data from India, showed that differences remained significant for the remaining s le ( χ 2 = 6.925, corrected p = 0.025) and for Asia ( χ 2 = 5.084, corrected p = 0.036). Excluding data from Asia, differences for the remaining s le were nonsignificant ( χ 2 = 2.205, p = 0.14). No proof of sex predilection in retinoblastoma was found in the present study, which is estimated to include over half of new retinoblastoma patients worldwide in 2017. A high male to female ratio in Asian countries, India in specific, which may have had an impact on global-level analysis, is likely due to gender discrimination in access to care in these countries, rather than a biological difference between sexes.
Publisher: Springer Science and Business Media LLC
Date: 08-01-2019
DOI: 10.1038/S41467-018-07819-1
Abstract: Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article.
Publisher: American Society for Clinical Investigation
Date: 12-2022
DOI: 10.1172/JCI156967
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 15-02-2018
DOI: 10.1167/TVST.7.1.18
Publisher: Elsevier BV
Date: 08-2022
Publisher: Cold Spring Harbor Laboratory
Date: 09-04-2018
DOI: 10.1101/297077
Abstract: Congenital glaucoma is a significant cause of irreversible blindness. In some instances glaucoma is associated with developmental abnormalities of the ocular anterior segment, which can impair drainage of aqueous humor, leading to an increase in intraocular pressure. Genome sequencing was performed on a parent-proband congenital glaucoma trio, with exome sequencing of 79 additional in iduals with suspected primary congenital glaucoma. We describe a unique ocular anterior segment dysgenesis associated with congenital glaucoma in four in iduals from three unrelated families. In each case, disease was associated with compound heterozygous variants in CPAMD8 , a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. CPAMD8 expression was highest in neural crest-derived tissues of the adult anterior segment, suggesting that CPAMD8 variation may cause malformation of key drainage structures and the development of high intraocular pressure and glaucoma. This study reveals a unique genetic cause of childhood glaucoma, and expands the phenotypic spectrum of CPAMD8 -associated ocular disease.
Publisher: Wiley
Date: 06-08-2020
DOI: 10.1002/PBC.28584
Publisher: Elsevier BV
Date: 2022
Publisher: Cold Spring Harbor Laboratory
Date: 26-05-2020
DOI: 10.1101/2020.05.25.20113126
Abstract: Home-based videogame treatments are increasingly being used for various sensory conditions, including amblyopia (“lazy eye”), but adherence continues to limit success. To examine detailed behavioral patterns associated with home-based videogame treatment, we analyzed in detail the videogame adherence data from the B inocular t reatment of a mblyopia with v ide o games (BRAVO) clinical trial (ACTRN12613001004752). Children (7-12 years), Teenagers (13-17 years) and Adults (≥18 years) with unilateral amblyopia were loaned iPod Touch devices with either an active treatment or placebo videogame and instructed to play for 1-2 hours/day for six weeks at home. Objectively-recorded adherence data from device software were used to analyze adherence patterns such as session length, daily distribution of gameplay, use of the pause function, and differences between age groups. Objectively-recorded adherence was also compared to subjectively-reported adherence from paper-based diaries. 105 of the 115 randomized participants completed six weeks of videogame training. Average adherence was 65% (SD 37%) of the minimum hours prescribed. Game training was generally performed in short sessions (mean 21.5, SD 11.2 minutes), mostly in the evening, with frequent pauses (median every 4.1 minutes, IQR 6.1). Children played in significantly shorter sessions and paused more frequently than older age groups (p .0001). Participants tended to over-report adherence in subjective diaries compared to objectively-recorded gameplay time. Adherence to home-based videogame treatment was characterized by short sessions interspersed with frequent pauses, suggesting regular disengagement. This complicates dose-response calculations and may interfere with the effectiveness of treatments like binocular treatments for amblyopia, which require sustained visual stimulation. ACTRN12613001004752
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 10-08-2018
Publisher: BMJ
Date: 08-2022
DOI: 10.1136/BMJOPHTH-2022-001064
Abstract: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of cases in Australia. This study aimed to replicate clinical gene screening to identify variants likely to be causative of disease in an Australian patient cohort. Sixty-three reported isolated cataract genes were screened for rare coding variants in 37 Australian families using genome sequencing. Disease-causing variants were confirmed in eight families with variant classification as ‘likely pathogenic’. This included novel variants PITX3 p.(Ter303LeuextTer100), BFSP1 p.(Glu375GlyfsTer2), and GJA8 p.(Pro189Ser), as well as, previously described variants identified in genes GJA3, GJA8, CRYAA, BFSP1, PITX3, COL4A1 and HSF4 . Additionally, eight variants of uncertain significance with evidence towards pathogenicity were identified in genes: GJA3, GJA8, LEMD2, PRX, CRYBB1, BFSP2, and MIP . These findings expand the genotype–phenotype correlations of both pathogenic and benign variation in cataract-associated genes. They further emphasise the need to develop additional evidence such as functional assays and variant classification criteria specific to paediatric cataract genes to improve interpretation of variants and molecular diagnosis in patients.
Publisher: Wiley
Date: 25-07-2022
DOI: 10.1002/JGC4.1618
Abstract: Despite reporting an overall normal life, survivors of heritable retinoblastoma face numerous physical and psychosocial issues. In particular, reproductive decision‐making is often complex and difficult. This study aims to examine survivors' reflections on passing on heritable retinoblastoma to their children, how survivors approach their reproductive choices, and how the healthcare system can optimize counseling and support. Semi‐structured interviews with Danish adult survivors of heritable retinoblastoma were qualitatively analyzed to explore their experiences. Participants were recruited from the Retinoblastoma Survivorship Clinic, Aarhus University Hospital, Denmark. Thematic data analysis was conducted followed by a condensing process specifically for the subthemes relating to reproductive choices. A common subtheme for all participants was a strong wish to avoid passing on retinoblastoma to their children. The participants emphasized the various medical, practical, emotional, and moral issues impacting their final reproductive choice in the process of family planning to conceive a child unaffected by retinoblastoma. Some had no option other than to conceive naturally and hope for an unaffected baby while others weighed the pros and cons of choosing natural conception with prenatal testing and then considering termination of pregnancy (in case of an affected fetus) versus choosing fertility treatment with preimplantation genetic testing to achieve an unaffected pregnancy. Several participants underlined the complexity of their decisions, and also expressed feelings of guilt, both toward their affected child, and guilt for putting their partner through many difficult decisions and obstacles due to their genetic condition. Our findings demonstrate how one family‐planning decision is not unequivocally “better” or easier than another. Healthcare professionals must provide the necessary information and tools to support the in idual's unique decision‐making process. Survivors' autonomy and in idual needs, as well as the numerous and erse aspects of heritable retinoblastoma, should be carefully considered.
Publisher: Springer Science and Business Media LLC
Date: 26-11-2011
DOI: 10.1038/EYE.2010.180
Publisher: Wiley
Date: 26-10-2020
DOI: 10.1111/CEO.13866
Publisher: Elsevier BV
Date: 05-2021
DOI: 10.1016/J.OGLA.2021.09.007
Abstract: To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma. Exploratory qualitative study. Forty-seven participants with childhood glaucoma (defined as disease onset <18 years) recruited from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG). A qualitative research methodology (interpretive phenomenology) was applied, and data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) was used to inductively analyze and code data to identify QoL themes pertinent to the cohort studied. Quality-of-life themes and subthemes. Mean participant age was 40.0 ± 15.3 years, and 55% of participants were female. We identified 10 QoL themes pertinent to adults living with childhood glaucoma. Coping strategies and emotional well-being were the most prominent themes. Maladaptive coping strategies, including treatment nonadherence, were observed more commonly in in iduals aged <40 years and those without a vision impairment or reviewed less regularly. Emotional well-being was affected by feelings of being misunderstood because of the rarity of the condition, being self-conscious of physical manifestations of the disease, and anxiety related to possible disease progression and vision loss. The effect of childhood glaucoma on family planning formed a novel QoL theme and included worry for their child to inherit the condition and an inability to fulfill parental duties. This often led to genetic counseling-seeking behaviors. Mobility issues were infrequently experienced. Childhood glaucoma poses a substantial impact to the emotional well-being of adults with the condition, which is mediated by the use of coping strategies. Genetic counseling and family planning options may be important. This study supports the development of a childhood glaucoma-specific patient-reported outcome measure for assessment of the psychosocial impact of childhood glaucoma in adults.
Publisher: Wiley
Date: 04-2010
DOI: 10.1111/J.1442-9071.2010.02236.X
Abstract: To review visual acuity outcomes from paediatric traumatic cataract and examine the mechanisms by which they occur. A retrospective review of paediatric patients (aged less than 18 years) who underwent lens surgery following ocular trauma, between 1992 and 2006 at the Royal Children's Hospital and Royal Victorian Eye and Ear Hospital in Melbourne. Data collected included gender, mechanism of injury, wound type, age at injury, age at surgery, refractive rehabilitation, complications and visual acuity outcome. A total of 74 patients (75% male) were identified over the 15-year period, representing an incidence of 4.9 cases per year. The mean age at injury was 7.5 years. Sixty-five cataracts (88%) followed a penetrating eye injury, whereas only nine patients (12%) developed cataract after known blunt trauma. Fourteen patients (19%) underwent lensectomy at the time of primary wound repair and 45 patients (61%) underwent primary intraocular lens (IOL) implantation. Visual acuity outcomes ranged from 6/5 to no perception of light. Twenty-five patients (34%) achieved 6/12 or better in the injured eye, 23 patients (31%) achieved between 6/15 and 6/60, and 14 patients (19%) had visual acuity of less than 6/60. Twelve patients (16%) were lost to follow-up. In a paediatric population, cataract formation as a result of trauma requiring lensectomy is not uncommon. Males are more likely to suffer from such injury. A variety of sharp and blunt objects are the primary mechanism by which the injury is sustained with variable visual outcomes.
Publisher: Springer Science and Business Media LLC
Date: 31-08-2014
DOI: 10.1038/NG.3087
Publisher: Springer Science and Business Media LLC
Date: 29-06-2023
DOI: 10.1038/S41588-023-01424-9
Abstract: Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3 . These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.
Publisher: Cold Spring Harbor Laboratory
Date: 04-12-2019
DOI: 10.1101/19013599
Abstract: Refractive error is caused by a disparity between the axial length and focusing power of the eye. Nanophthalmos is a rare ocular abnormality in which both eyes are abnormally small, typically causing extreme hyperopic refractive error, and associated with an increased risk of angle-closure glaucoma. A cohort of 40 in iduals from 13 unrelated nanophthalmos kindreds were recruited, with 11 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in PRSS56 (4), MFRP (3), and previously reported variants in TMEM98 (1) and MYRF (1). Two of the four PRSS56 probands harboured the previously described c.1066dupC frameshift variant implicated in over half of all reported PRSS56 kindreds, with surrounding haplotypes distinct from each other, and from a previously reported Tunisian c.1066dupC haplotype. In iduals with a genetic diagnosis had shorter mean axial lengths ( P =7.22×10 −9 ) and more extreme hyperopia ( P =0.0005) than those without a genetic diagnosis, with recessive forms associated with the shortest axial lengths and highest hyperopia. All in iduals with an axial length below 18 mm in their smaller eye (17/17) were assigned a genetic diagnosis. These findings detail the genetic architecture of nanophthalmos in an Australian cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.
Publisher: Wiley
Date: 27-11-2014
DOI: 10.1002/PD.4514
Abstract: This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB. This is a retrospective review of the prenatal course and immediate postnatal findings in all children considered at high risk of RB who had prenatal imaging with both US and MRI at our institution over a 5-year period. Five patients met the inclusion criteria. No lesions were identified on US in any patients. Fetal MRI identified bilateral posterior pole lesions in one patient at 35 weeks' gestation. Of the four remaining patients, three developed lesions by 5 weeks of age. Only one fetus was delivered early following detection of RB. We present the first reported case of RB detected in a high-risk fetus on screening MRI at 35 weeks' gestation. A protocol for screening this population using both imaging modalities is presented.
Publisher: Wiley
Date: 19-08-2022
DOI: 10.1002/MGG3.2023
Abstract: Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies (IC3D) lists 22 types of corneal dystrophy, 17 of which have been demonstrated to result from pathogenic variants in 19 identified genes. In this study, we investigated the diagnostic yield of genetic testing in a well‐characterised cohort of 58 in iduals from 44 families with different types of corneal dystrophy. In iduals diagnosed solely with Fuchs endothelial corneal dystrophy were excluded. Clinical details were obtained from the treating ophthalmologist. Participants and their family members were tested using a gene candidate and exome sequencing approach. We identified a likely molecular diagnosis in 70.5% families (31/44). The detection rate was significantly higher among probands with a family history of corneal dystrophy (15/16, 93.8%) than those without (16/28, 57.1%, p = .015), and among those who had undergone corneal graft surgery (9/9, 100.0%) compared to those who had not (22/35, 62.9%, p = .041). We identified eight novel variants in five genes and identified five families with syndromes associated with corneal dystrophies. Our findings highlight the genetic heterogeneity of corneal dystrophies and the clinical utility of genetic testing in reaching an accurate clinical diagnosis.
Publisher: Springer Science and Business Media LLC
Date: 17-05-2017
DOI: 10.1038/EJHG.2017.59
Publisher: Public Library of Science (PLoS)
Date: 22-06-2011
Publisher: Wiley
Date: 12-03-2013
DOI: 10.1111/CEO.12067
Abstract: To determine the incidence and predictors of glaucoma following surgery for congenital and infantile cataract in an Australian population. Retrospective cohort study. Infants (<12 months) having had lens extraction between January 1992 and May 2006, from two tertiary referral centres. Children with uveitis, anterior segment dysgenesis, aniridia, retinopathy of prematurity, and lens subluxation were excluded. Potential predictors of incident glaucoma were examined using Cox proportional hazards regression with adjustment for clustering between eyes. Incidence and predictors of secondary glaucoma. One hundred and forty-seven eyes of 101 patients (46 bilateral cataract 55 unilateral cataract) were included, with median follow-up of 9.9 years (range 1.2-18.9 years). Cumulative incidence of glaucoma was 32.0% for eyes (n = 47) and 30.7% (n = 31) for subjects. Incidence was higher in children with bilateral cataract (38.9 vs. 17.1%, p = 0.004). There were 3.9 cases of glaucoma per 100 person years of follow-up, the incidence rate being highest for surgery performed in the first month of life. Children with glaucoma had longer median follow-up (11.8 vs. 9.3 years, p = 0.005). Risk of glaucoma decreased with increasing months of age at operation: hazard ratio 0.79, 95% confidence interval 0.69-0.91, p = 0.001. Median visual acuity was worse in children with unilateral cataract (p < 0.001). We identified an increased risk of glaucoma when cataract surgery was performed in younger infants, and in those with bilateral cataract. As glaucoma may develop over a decade following lens extraction, life-long surveillance is needed to prevent glaucoma-associated vision loss.
Publisher: Elsevier BV
Date: 06-2020
Publisher: Oxford University Press (OUP)
Date: 10-2017
Abstract: Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported pediatric cataract genes in 33 affected in iduals with a family history (cases with previously known or published mutations were excluded) using the Ion Torrent Personal Genome Machine. Variants were prioritized for validation if they were predicted to alter the protein sequence and were absent or rare with minor allele frequency & % in public databases. Confirmed mutations were assessed for segregation with the phenotype in all available family members. All identified novel or previously reported cataract-causing mutations were screened in 326 unrelated Australian controls. We detected 11 novel mutations in GJA3, GJA8, CRYAA, CRYBB2, CRYGS, CRYGA, GCNT2, CRYGA, and MIP and three previously reported cataract-causing mutations in GJA8, CRYAA, and CRYBB2. The most commonly mutated genes were those coding for gap junctions and crystallin proteins. Including previous reports of pediatric cataract-associated mutations in our Australian cohort, known genes account for & % of familial pediatric cataract in Australia, indicating that still more causative genes remain to be identified.
Publisher: Wiley
Date: 19-06-2015
DOI: 10.1111/CEO.12541
Abstract: X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females. Clinical and molecular characterization of male and female in iduals affected with XLRS in a consanguineous family. Consanguineous Eastern European-Australian family Four clinically affected and nine unaffected family members were genetically and clinically characterized. Deoxyribonucleic acid (DNA) analysis was conducted by the Australian Inherited Retinal Disease Register and DNA Bank. Clinical and molecular characterization of the causative mutation in a consanguineous family with XLRS. By direct sequencing of the RS1 gene, one pathogenic variant, NM_000330.3: c.304C > T, p. R102W, was identified in all clinically diagnosed in iduals analysed. The two females were homozygous for the variant, and the males were hemizygous. Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.
Publisher: Cold Spring Harbor Laboratory
Date: 18-10-2019
DOI: 10.1101/19009183
Abstract: Early diagnosis and intervention is essential to achieve optimal outcomes for most pediatric eye diseases. Educating parents/caregivers to recognize early signs of disease and consult a healthcare professional is critical to achieving this aim. We evaluate the effectiveness of an eye-health information p hlet on parents’ level of concern and their help-seeking intention if they observed leukocoria or strabismus. Pregnant women attending a metropolitan antenatal clinic were recruited to the study. Participants were randomly assigned to receive a p hlet on either pediatric eye health (intervention) or strategies for play (control). The primary outcome measure was a change in the parents’ level of concern if they observed leukocoria or strabismus. The secondary outcome measure was a change in their help-seeking intention if either sign was observed. Of the 518 women enrolled, 382 (73.7%) completed the post-test survey. At follow-up, women who received the intervention were more likely to report a higher level of concern if they observed leukocoria (OR 1.711 [CI: 1.176-2.497] p=0.005]) and were less likely to have a delayed help-seeking intention. (OR 0.560 [CI 0.382-0.817] p =0.003) No change in the level of concern for strabismus was identified between the groups however, at follow-up, women who received the intervention were less likely to delay help-seeking (OR 0.318 [CI 0.125-0.806] p=0.016). Providing parents with relevant, evidence-based information can significantly improve their knowledge and positively influence help-seeking intentions if leukocoria or strabismus are observed. ANZCTR.org.au identifier: ACTRN12617001431314p World Health Organization Universal Trial Number: U1111-1203-0485 This study reports the results of a randomised controlled trial evaluating a novel, evidence-based, theory-informed pediatric eye-health information p hlet for parents. Lack of parental awareness of signs of pediatric eye disease (leukocoria and strabismus) delays consultation with healthcare professionals (help-seeking), contributing to late diagnosis and poor outcomes. Providing parents with relevant health information can improve their child’s health outcomes. Using an RCT to evaluate a novel health intervention, this study demonstrates that providing parents with evidence-based, theory informed pediatric eye-health information can improve their knowledge and help-seeking intentions if leukocoria or strabismus are observed in their child.
Publisher: American Medical Association (AMA)
Date: 02-2018
Publisher: Elsevier BV
Date: 06-2020
Publisher: Elsevier BV
Date: 11-2021
Publisher: Wiley
Date: 05-03-2020
DOI: 10.1111/CGE.13722
Publisher: Springer Science and Business Media LLC
Date: 14-05-2018
DOI: 10.1038/S41467-018-03646-6
Abstract: 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. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, % of the CCT-loci are near or within Mendelian disorder genes. These included FBN1 , ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus ( r = −0.62, P = 5.30 × 10 −5 ) but not between CCT and primary open-angle glaucoma ( r = −0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.
Publisher: Informa UK Limited
Date: 03-2021
Publisher: Elsevier BV
Date: 04-2021
Publisher: Wiley
Date: 27-04-2011
DOI: 10.1111/J.1442-9071.2011.02556.X
Abstract: To develop, implement and evaluate a telemedicine model to reduce glaucoma blindness through the early detection of undiagnosed glaucoma in high-risk in iduals. Prospective study, private ophthalmology practice and public outpatient clinics in Tasmania. One hundred and thirty-three in iduals with primary open-angle glaucoma were invited to enrol their first-degree relatives (FDRs) to undergo an eye examination. Within the study period, 211 FDRs were available for examination. A registered nurse was trained to perform the required assessments. Clinical data were entered into a purpose-built database, converted to a portable document format and graded offsite by an ophthalmologist to determine the presence, absence or risk of developing glaucoma. Participants were notified of the grading result and recommendations for review. Incidence of undiagnosed glaucoma in a high-risk population. Previously undiagnosed glaucoma was identified in 5% of those examined. For every 19 participants screened, one new case of previously undiagnosed case of glaucoma was identified. Additionally 15% of participants showed suspicious signs of glaucoma, and 6% had ocular hypertension. A telemedicine model is an efficient method for screening, grading and notifying participants of examination results. Nurses can be adequately trained to undertake the initial screening examinations, with grading of the results performed offsite by a suitably qualified ophthalmologist. Targeted screening for glaucoma increases the yield of identifying in iduals with undiagnosed glaucoma or those at greatest risk. Cost efficiencies for this model of glaucoma screening should be further explored and implemented to prevent blindness from familial glaucoma.
Publisher: American Medical Association (AMA)
Date: 05-2020
Publisher: BMJ
Date: 07-2022
DOI: 10.1136/BMJOPEN-2022-062754
Abstract: Childhood glaucoma is a chronic vision-threatening condition that may significantly impact an in idual’s psychosocial well-being. There is a paucity of literature investigating the quality of life (QoL) in children with glaucoma. The aim of this study was to investigate and report on the QoL issues encountered by children with glaucoma. This is a qualitative interview study. Data were collected through semistructured interviews. NVivo V.12 software (QSR International Pty Ltd, Melbourne, Australia) was used to analyse and code data to identify QoL themes. The prominence of QoL themes was determined by the number of children who raised issues connected to the corresponding theme. Interviews were conducted via telephone or videoconferencing between April 2020 and July 2021. Eighteen children with glaucoma, aged 8–17 years, who resided in Australia, were recruited from the Australian and New Zealand Registry of Advanced Glaucoma. Median child age was 12.1 years (IQR: 9.7–14.5 years) and 33% were female. Seven QoL themes were identified: ‘coping’, ‘inconveniences’ and ‘emotional well-being’ were more prominent themes than ‘symptoms’, ‘ocular health concerns’, ‘social well-being’ and ‘autonomy’. Adaptive coping strategies included resilience throughout clinical examinations and establishing positive relationships with ophthalmologists. These minimised inconveniences related to clinic waiting times and pupillary dilatation. External to the clinical setting, children often dissociated from their glaucoma but struggled with glare symptoms and feeling misunderstood by fellow peers. Older children aged 13–17 years commonly disengaged from their glaucoma care and expressed an unwillingness to attend ophthalmic appointments. Older children further raised issues with career options, obtaining a driver’s licence and family planning under the theme of autonomy. The psychosocial impact of childhood glaucoma extends beyond the clinical environment and was minimised using coping strategies. Older children may require additional social and ophthalmic support as they transition into adulthood.
Publisher: Cambridge University Press (CUP)
Date: 13-06-2012
DOI: 10.1017/THG.2012.22
Abstract: Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent (‘phoria’) and manifest (‘tropia’) strabismus using cover–uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) ( r = 0.65) compared to dizygotic (DZ) twin pairs ( r = 0.33), suggesting a genetic role ( p = .003). There was no significant difference in polychoric correlation between MZ ( r = 0.55) and DZ twin pairs ( r = 0.53) for exo-deviation ( p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% CI 0.50–0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and unravel their mechanisms of action.
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 11-08-2020
Publisher: American Medical Association (AMA)
Date: 04-2019
Publisher: Wiley
Date: 22-01-2018
DOI: 10.1111/OPO.12437
Abstract: Optical treatment alone can improve visual acuity ( VA ) in children with amblyopia, thus clinical trials investigating additional amblyopia therapies (such as patching or videogames) for children require a preceding optical treatment phase. Emerging therapies for adult patients are entering clinical trials. It is unknown whether optical treatment is effective for adults with amblyopia and whether an optical correction phase is required for trials involving adults. We examined participants who underwent optical treatment in the Binocular Treatment for Amblyopia using Videogames ( BRAVO ) clinical trial ( ANZCTR ID : ACTRN 12613001004752). Participants were recruited in three age groups (7 to 12, 13 to 17, or ≥18 years), and had unilateral amblyopia due to anisometropia and/or strabismus, with amblyopic eye VA of 0.30–1.00 log MAR (6/12 to 6/60, 20/40 to 20/200). Corrective lenses were prescribed based on cycloplegic refraction to fully correct any anisometropia. VA was assessed using the electronic visual acuity testing algorithm (e‐ ETDRS ) test and near stereoacuity was assessed using the Randot Preschool Test. Participants were assessed every four weeks up to 16 weeks, until either VA was stable or until amblyopic eye VA improved to better than 0.30 log MAR , rendering the participant ineligible for the trial. Eighty participants (mean age 24.6 years, range 7.6–55.5 years) completed four to 16 weeks of optical treatment. A small but statistically significant mean improvement in amblyopic eye VA of 0.05 log MAR was observed ( S.D. 0.08 log MAR paired t ‐test p 0.0001). Twenty‐five participants (31%) improved by ≥1 log MAR line and of these, seven (9%) improved by ≥2 log MAR lines. Stereoacuity improved in 15 participants (19%). Visual improvements were not associated with age, presence of strabismus, or prior occlusion treatment. Two adult participants withdrew due to intolerance to anisometropic correction. Sixteen out of 80 participants (20%) achieved better than 0.30 log MAR VA in the amblyopic eye after optical treatment. Nine of these participants attended additional follow‐up and four (44%) showed further VA improvements. Improvements from optical treatment resulted in one‐fifth of participants becoming ineligible for the main clinical trial. Studies investigating additional amblyopia therapies must include an appropriate optical treatment only phase and/or parallel treatment group regardless of patient age. Optical treatment of amblyopia in adult patients warrants further investigation.
Publisher: Public Library of Science (PLoS)
Date: 27-08-2013
Publisher: American Chemical Society (ACS)
Date: 06-02-2017
DOI: 10.1021/ACS.ORGLETT.6B03619
Abstract: The new ansa macrolide antibiotics 1 to 4 have been isolated from cultures of a Micromonospora sp. obtained from a marine sediment. Rifamycins 1 and 2 are the first natural ansa macrolides to have a 3-amino substituent. Sporalactams A (3) and B (4) are comprised of a heterocylic core 5 and a 14-membered ansa bridge that are both unprecedented. Sporalactam B (4) shows selective and potent inhibition of Mycobacterium tuberculosis.
Publisher: Elsevier BV
Date: 09-2022
DOI: 10.1016/J.OGLA.2022.02.005
Abstract: To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of in iduals with childhood glaucoma. Exploratory, qualitative study. Thirty-five caregivers of in iduals with childhood glaucoma (defined as disease onset before 18 years of age) recruited from the Australian and New Zealand Registry of Advanced Glaucoma. A qualitative research methodology (interpretive phenomenology) was applied. Data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) was used to analyze, code, and organize data into QoL themes inductively. Quality-of-life themes and their subthemes. The mean caregiver age was 50.2 ± 13.6 years, and 27 of 35 caregivers (77%) were mothers of an in idual with childhood glaucoma. A total of 6 QoL themes were identified. Coping strategies and emotional well-being were the most prominent themes. Caregivers frequently adopted problem-focused adaptive coping strategies including partner or peer support, and normalization. A caregiver's psychosocial well-being was often impacted by feelings of guilt and regret regarding their child's delayed diagnosis, fear and anxiety related to medical and social support, and loss of control as their child developed medical autonomy. The effect of family planning from the perspective of the caregiver formed a novel QoL theme and was associated with normalization and parental confidence in management of the condition. Childhood glaucoma poses a substantial threat to a caregiver's psychosocial well-being. Strategies that promote normalization, peer support, psychotherapeutic intervention, and genetic counseling may be indicated and, indeed, critical to the caregiver as they adapt to supporting their child with glaucoma.
Publisher: Wiley
Date: 19-06-2012
DOI: 10.1111/J.1442-9071.2012.02804.X
Abstract: To characterize the clinical and genetic abnormalities within two Australian pedigrees with high incidences of retinal detachment and visual disability. Prospective review of two extended Australian pedigrees with high rates of retinal detachment. Twenty-two family members from two extended Australian pedigrees with high rates of retinal detachment were examined. A full ophthalmic history and examination were performed, and DNA was analysed by linkage analysis and mutation screening. Characterization of a causative hereditary gene mutation in each family. All affected family members of one pedigree carried a C192A COL2A1 exon 2 mutation. None of the affected family members had early-onset arthritis, hearing abnormalities, abnormal clefting or facial features characteristic of classical Stickler syndrome. All affected members of the familial exudative vitreoretinopathy pedigree carried a 957delG FZD4 mutation. Patients with retinal detachment and a positive family history should be investigated for heritable conditions associated with retinal detachment such as Stickler syndrome and familial exudative vitreoretinopathy. The absence of non-ocular features of Stickler syndrome should raise the possibility of mutations in exon 2 of COL2A1. Similarly, late-onset familial exudative vitreoretinopathy may appear more like a rhegmatogenous detachment and not be correctly diagnosed. When a causative gene mutation is identified, cascade genetic screening of the family will facilitate genetic counselling and screening of high-risk relatives, allowing targeted management of the pre-detachment changes in affected patients.
Publisher: Informa UK Limited
Date: 26-06-2014
Publisher: Elsevier BV
Date: 09-2022
DOI: 10.1016/J.EJMG.2022.104569
Abstract: Survivors with heritable retinoblastoma (RB) face a high risk for second primary cancer and RB in their children. Knowledge of heredity can support second cancer surveillance, convey reproductive options or early diagnosis of RB in their offspring. Currently, all newly diagnosed Danish patients with RB are offered genetic testing, as opposed to a minority of survivors diagnosed before available DNA testing. To examine RB survivors' response to unsolicited contact, uptake of genetic testing, and RB1 variant detection rate, and to qualitatively evaluate the experience and overall impact of genetic testing for heritable RB. Genetically untested adult RB survivors were invited to receive genetic counseling, undergo genetic testing for heritable RB and complete an eye examination. The number of responses, uptake of genetic testing and genetic results are descriptively reported. Additionally, responding survivors participated in a qualitative interview study of the perceived impact of genetic testing. Interviews were audio-recorded, transcribed verbatim and thematically analyzed. Among invited RB survivors, 58% responded. Of these, 88% opted for genetic counseling and genetic testing. A diagnosis of heritable RB was established in 23% of RB survivors. Interestingly, all of these survivors were unilaterally affected. Analysis of data from the interviews revealed three recurring themes regarding the impact of genetic counseling and testing several years after initial diagnosis: 'Risk of what?', 'Knowledge is important' and 'Impact of the result'. The possible risk ofsecond cancer and RB in their children was new knowledge for several participants however, in general, the participants appreciated receiving genetic information and certainty about heredity. Accordingly, the impact of genetic counseling and testing was perceived in a positive way. Overall, RB survivors valued the opportunity to receive genetic counseling and undergo genetic testing many years after diagnosis. Responding RB survivors appreciated the invitation to test, felt well-informed and described little decisional conflict regarding their decision-making, valuing the genetic information and certainty. Heritable RB was confirmed in 23% of the previously untested RB survivors. These in iduals emphasized the value of knowing and being proactive regarding both reproduction and cancer risk.
Publisher: Elsevier BV
Date: 11-2021
Start Date: 2016
End Date: 2018
Funder: National Health and Medical Research Council
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