ORCID Profile
0000-0003-0214-2304
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Publisher: Wiley
Date: 12-2007
DOI: 10.1111/J.1442-9071.2007.01613.X
Abstract: To document the presentation and management of congenital III nerve palsy and monocular elevation deficiency to single ophthalmologist over a 14-year period. Surgical management was reviewed and visual outcome was analysed. A retrospective study was conducted of all patients presenting during a period between 1992 and 2006 to the private practice of a paediatric ophthalmologist, with either congenital III or monocular elevation deficiency. For patients requiring surgical intervention pre- and post-surgical data were documented and analysed. A total of 19 congenital III and 13 monocular elevation deficiency patients were identified. There were eight surgical patients in each congenital III nerve palsy group and in the monocular elevation deficiency group. The congenital III group had a preoperative mean exotropia for near of -36 prism dioptres (PD) compared with postoperative mean exotropia for near -16 PD. Preoperative mean hypotropia for near of -19 PD was improved to postoperative mean hypotropia of -5 PD. The monocular elevation deficiency group had preoperative mean esotropia for near of +6 PD compared with postoperative mean exotropia for near -5 PD. Preoperative mean hypotropia for near of -15 PD was improved to postoperative mean hypotropia of -7 PD. At last follow up both groups had a majority of mild or no amblyopia noted. Superficially, congenital III and monocular elevation deficiency may appear similar, both frequently having ptosis and hypotropia as features. Careful clinical assessment of the horizontal alignment and the result of forced duction testing will usually allow them to be distinguished. Congenital III more frequently requires surgery for exotropia as well as surgery for hypotropia and monocular elevation deficiency more often requires surgery just for hypotropia. The ptosis surgery is similar for either diagnosis in this study. Significant cosmetic improvement, as well as excellent visual acuity outcomes can be achieved.
Publisher: BMJ
Date: 2004
DOI: 10.1136/BJO.88.1.79
Abstract: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia. 38 families with autosomal dominant or recessive paediatric cataract were examined. Three large families were studied by linkage analysis. Candidate genes at regions providing significant LOD scores were sequenced. Single stranded conformational polymorphism (SSCP) analysis was used to screen five crystallin genes in the probands, followed by direct sequencing of observed electrophoretic shifts. Mutations predicted to affect the coding sequence were subsequently investigated in the entire pedigree. A LOD score of 3.72 was obtained at the gamma-crystallin locus in one pedigree. Sequencing revealed a P23T mutation of CRYGD, found to segregate with disease. A splice site mutation at the first base of intron 3 of the CRYBA1/A3 gene segregating with disease was identified by SSCP in another large family. Five polymorphisms were also detected. Although mutations in the five crystallin genes comprehensively screened in this study account for 38% of paediatric cataract mutations in the literature, only two causative mutations were detected in 38 pedigrees, suggesting that crystallin mutations are a relatively rare cause of the cataract phenotype in this population.
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: Wiley
Date: 28-07-2004
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: Elsevier BV
Date: 2016
DOI: 10.1016/J.JPEDS.2015.10.005
Abstract: Randomized trials of oxygen saturation target ranges for extremely preterm infants showed increased survival but increased retinopathy of prematurity with higher compared with lower target ranges. In our center, changing from a target range of 88%-92% to 91%-95% has been associated with increased rates and severity of retinopathy of prematurity.
Publisher: Wiley
Date: 11-10-2021
DOI: 10.1111/PDE.14833
Abstract: An infant girl developed a hemangioma affecting her left iris concurrently with diffuse cutaneous infantile hemangiomas from day 2 of life. Intraocular hemangiomas are rarely reported and are usually associated with neonatal hemangiomatosis, the presence of which indicates a high risk for visceral lesions. This striking case highlights the unusual clinical presentation of iris hemangioma and demonstrates the importance of conducting visceral screening when faced with these lesions. Oral propranolol was commenced and resulted in rapid improvement of all lesions without complication.
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: Springer Science and Business Media LLC
Date: 17-05-2017
DOI: 10.1038/EJHG.2017.59
Publisher: Elsevier BV
Date: 06-2020
Publisher: Springer Science and Business Media LLC
Date: 19-04-2021
DOI: 10.1038/S41431-021-00889-8
Abstract: Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had previously mapped to Xq24. Linkage at Xq24–25 (LOD = 2.53) was confirmed, and the region refined with a denser marker map. In addition, two autosomal regions with suggestive evidence of linkage were observed. A segregating 127 kb deletion (chrX:g.118373226_118500408del) in the Xq24–25 linkage region was identified from whole-genome sequencing data. This deletion completely removed a commonly deleted long non-coding RNA gene LOC101928336 and truncated the protein coding progesterone receptor membrane component 1 ( PGRMC1 ) gene following exon 1. A literature search revealed a report of two unrelated males with non-syndromic intellectual disability, as well as congenital cataract, who had contiguous gene deletions that accounted for their intellectual disability but also disrupted the PGRMC1 gene. A morpholino-induced pgrmc1 knockdown in a zebrafish model produced significant cataract formation, supporting a role for PGRMC1 in lens development and cataract formation. We hypothesise that the loss of PGRMC1 causes cataract through disrupted PGRMC1-CYP51A1 protein–protein interactions and altered cholesterol biosynthesis. The cause of paediatric cataract in this family is the truncating deletion of PGRMC1 , which we report as a novel cataract gene.
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: Elsevier BV
Date: 12-2013
DOI: 10.1016/J.JAAPOS.2013.07.010
Abstract: Scedosporium prolificans is an opportunistic fungus with a predilection for sepsis and endophthalmitis in immunocompromised patients. We report a case of endogenous S. prolificans endophthalmitis in a 9-year-old girl following chemotherapy for acute myeloid leukemia. She achieved an excellent visual outcome following intensive antifungal therapy.
Publisher: American Medical Association (AMA)
Date: 07-2015
DOI: 10.1001/JAMAOPHTHALMOL.2015.0980
Abstract: Juvenile open-angle glaucoma (JOAG) is a severe neurodegenerative eye disorder in which most of the genetic contribution remains unexplained. To assess the prevalence of pathogenic CYP1B1 sequence variants in an Australian cohort of patients with JOAG and severe visual field loss. For this cohort study, we recruited 160 patients with JOAG classified as advanced (n = 118) and nonadvanced (n = 42) through the Australian and New Zealand Registry of Advanced Glaucoma from January 1, 2007, through April 1, 2014. Eighty in iduals with no evidence of glaucoma served as a control group. We defined JOAG as diagnosis before age 40 years and advanced JOAG as visual field loss in 2 of the 4 central fixation squares on a reliable visual field test result. We performed direct sequencing of the entire coding region of CYP1B1. Data analysis was performed in October 2014. Identification and characterization of CYP1B1 sequence variants. We identified 7 different pathogenic variants among 8 of 118 patients with advanced JOAG (6.8%) but none among the patients with nonadvanced JOAG. Three patients were homozygous or compound heterozygous for CYP1B1 pathogenic variants, which provided a likely basis for their disease. Five patients were heterozygous. The allele frequency among the patients with advanced JOAG (11 in 236 [4.7%]) was higher than among our controls (1 in 160 [0.6%] P = .02 odds ratio, 7.8 [95% CI, 0.02-1.0]) or among the control population from the Exome Aggregation Consortium database (2946 of 122 960 [2.4%] P = .02 odds ratio, 2.0 [95% CI, 0.3-0.9]). In iduals with CYP1B1 pathogenic variants, whether heterozygous or homozygous, had worse mean (SD) deviation on visual fields (-24.5 [5.1] [95% CI, -31.8 to -17.2] vs -15.6 [10.0] [95% CI, -17.1 to -13.6] dB F1,126 = 5.90 P = .02 partial ηp2 = 0.05) and were younger at diagnosis (mean [SD] age, 23.1 [8.4] [95% CI, 17.2-29.1] vs 31.5 [8.0] [95% CI, 30.1-33.0] years F1,122 = 7.18 P = .008 ηp2 = 0.06) than patients without CYP1B1 pathogenic variants. Patients with advanced JOAG based on visual field loss had enrichment of CYP1B1 pathogenic variants and a more severe phenotype compared with unaffected controls and patients with nonadvanced JOAG.
Publisher: Wiley
Date: 02-2004
DOI: 10.1046/J.1442-9071.2004.00750.X
Abstract: Primary infantile glaucoma presents rarely, but can be responsible for significant visual morbidity. There is little information on the clinical features and visual outcome of a pure population of primary infantile glaucoma, as opposed to a mixed population of primary and secondary glaucoma or combined group of those with trabeculodysgenesis and iridotrabeculodysgenesis. We conducted a retrospective review of children with primary infantile glaucoma seen in south-eastern Australia between 1980 and 2000, using The Royal Children's Hospital ophthalmic diagnostic coding database. Fifty-one patients with primary infantile glaucoma were identified (83 eyes). This equates to an estimated incidence of approximately 1 in 30,000 births. The mean +/- SD age at presentation was 135 +/- 84 days. 'Burnt-out' disease (megalocornea without raised intraocular pressure) was diagnosed in 10.8%. Goniotomy was the most commonly performed surgical procedure (69.4% of 72 eyes). Surgical success with one or two goniotomies was achieved in 74% of eyes. Visual outcomes at final review were generally good with 61.8% reading 6/12 or better. There were a disproportionately high number of children having a final recorded acuity of <6/60 in the group diagnosed in the first 3 months of life. Primary infantile glaucoma is a rare ocular condition in this population that presents at a mean age of 4.4 months. Surgical and visual outcomes are generally favourable.
Publisher: AIP Publishing
Date: 21-09-2020
DOI: 10.1063/5.0018012
Abstract: High kinetic inductance materials constitute a valuable resource for superconducting quantum circuits and hybrid architectures. Superconducting granular aluminum (grAl) reaches kinetic sheet inductances in the nH/□ range, with proven applicability in superconducting quantum bits and microwave detectors. Here, we show that the single photon internal quality factor Qi of grAl microwave resonators exceeds 105 in magnetic fields up to 1 T, aligned in-plane to the grAl films. Small perpendicular magnetic fields, in the range of 0.5 mT, enhance Qi by approximately 15%, possibly due to the introduction of quasiparticle traps in the form of fluxons. Further increasing the perpendicular field deteriorates the resonators' quality factor. These results open the door for the use of high kinetic inductance grAl structures in circuit quantum electrodynamics and hybrid architectures with magnetic field requirements.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 10-2011
Publisher: Informa UK Limited
Date: 2006
DOI: 10.1080/13816810600870843
Abstract: Primary infantile glaucoma (PIG) is predominantly inherited as a recessive disease, whereas anterior segment dysgenesis (ASD) is usually dominantly inherited. The purpose of this study was to determine the likelihood of a person who has infantile glaucoma to produce a child who also manifests the disease. A retrospective cross-sectional design was utilized. The pedigrees of probands from south-eastern Australia diagnosed with infantile glaucoma since 1980 were reviewed. Cases were sub ided into two groups according to the presence or absence of ASD. Exclusion criteria included incomplete pedigree phenotype information or aphakic glaucoma following congenital cataract surgery. Fisher's exact test was used to compare the parent-offspring phenotype transmission between ASD-associated infantile glaucoma and PIG. A total of 67 probands were identified however, three pedigrees were excluded due to incomplete phenotype information. Direct parent-offspring transmission of phenotype was statistically significantly more common in ASD-associated infantile glaucoma (2/8) than in PIG (1/56) pedigrees (p = 0.039). Although this study reveals that Australian patients with ASD-associated infantile glaucoma are at greater risk of having children with infantile glaucoma than patients with PIG, the number of ASD pedigrees with direct transmission of infantile glaucoma is lower than expected. Based on our population frequency analysis and the results of our study, the risk of PIG, if one parent is affected by PIG and the other is normal, is less than 2%.
Publisher: BMJ
Date: 07-2002
DOI: 10.1136/BJO.86.7.782
Abstract: Paediatric cataract is a major cause of childhood blindness. Several genes associated with congenital and paediatric cataracts have been identified. The aim was to determine the incidence of cataract in a population, the proportion of hereditary cataracts, the mode of inheritance, and the clinical presentation. The Royal Children's Hospital and the Royal Victorian Eye and Ear Hospital have a referral base for almost all paediatric patients with cataracts in south eastern Australia. The database contains cases seen over the past 25 years. The medical histories of these patients were reviewed. 421 patients with paediatric cataract were identified, which gives an estimated incidence of 2.2 per 10,000 births. Of the 342 affected in iduals with a negative family history, 50% were diagnosed during the first year of life, and 56/342 (16%) were associated with a recognised systemic disease or syndrome. Unilateral cataract was identified in 178/342 (52%) of sporadic cases. 79 children (from 54 nuclear families) had a positive family history. Of these 54 families, 45 were recruited for clinical examination and DNA collection. Ten nuclear families were subsequently found to be related, resulting in four larger pedigrees. Thus, 39 families have been studied. The mode of inheritance was autosomal dominant in 30 families, X linked in four, autosomal recessive in two, and uncertain in three. In total, 178 affected family members were examined of these 8% presented with unilateral cataracts and 43% were diagnosed within the first year of life. In the paediatric cataract population examined, approximately half of the patients were diagnosed in the first year of life. More than 18% had a positive family history of cataracts. Of patients with hereditary cataracts 8% presented with unilateral involvement. Identification of the genes that cause paediatric and congenital cataract should help clarify the aetiology of some sporadic and unilateral cataracts.
Publisher: Elsevier BV
Date: 04-2021
Publisher: American Medical Association (AMA)
Date: 05-2020
Publisher: Wiley
Date: 11-1998
DOI: 10.1111/J.1442-9071.1998.TB01332.X
Abstract: The aim of the present study was to test the hypothesis that adjunctive local anaesthesia decreases postoperative pain, vomiting or length of stay in children having strabismus repair A prospective, randomized, triple-armed clinical trial involving a treatment comparison between topical amethocaine, sub-conjunctival bupivacaine and, as a placebo, topical normal saline was performed. All treatments were given at the end of surgery before emergence from the anaesthetic. Overall, there was no statistically significant difference between outcome measures in the three trial groups. Using post hoc analysis there was a statistically significant difference between the groups receiving amethocaine and bupivacaine compared with the saline group in terms of the pain score at 120 min postoperatively. This difference has little clinical significance. Neither topical amethocaine nor subconjunctival bupivacaine makes a clinically significant difference to postoperative pain, emesis or length of stay. Moderate dose paracetamol per rectum alone appears to be effective analgesia for strabismus surgery, although it probably masked any small adjunctive effect of the topical anaesthesia used in the present trial.
Publisher: BMJ
Date: 08-2004
Publisher: Wiley
Date: 16-08-2007
DOI: 10.1111/J.1399-0004.2007.00864.X
Abstract: Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients from various ethnic populations indicates that allelic heterogeneity is high, and some mutations are population specific. No study has previously reported the rate or spectrum of CYP1B1 mutations in Australian PCG patients. The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. Thirty-seven probands were recruited from South-Eastern Australia, along with 100 normal control subjects. Genomic DNA was extracted and the coding regions of CYP1B1 analysed by direct sequencing. Sequence analysis identified 10 different CYP1B1 disease-causing variants in eight probands (21.6%). Five subjects were compound heterozygotes, two subjects heterozygous and one homozygous for CYP1B1 mutations. Three missense mutations are novel (D192Y, G329D, and P400S). None of the novel mutations identified were found in normal controls. One normal control subject was heterozygous for the previously reported CYP1B1 R368H mutation. Six previously described probable polymorphisms were also identified. Mutations in CYP1B1 account for approximately one in five PCG cases from Australia. Our data also supported the high degree of allelic heterogeneity seen in similar studies from other ethnic populations, thereby underscoring the fact that other PCG-related genes remain to be identified.
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 10-08-2018
Publisher: Association for Research in Vision and Ophthalmology (ARVO)
Date: 11-08-2020
Publisher: Elsevier BV
Date: 10-2020
Publisher: American Medical Association (AMA)
Date: 04-2019
Publisher: Wiley
Date: 19-07-2005
DOI: 10.1111/J.1442-9071.2005.01032.X
Abstract: To present the 2-year results of all patients receiving laser treatment for retinopathy of prematurity (ROP) at a single institution over a 9.5-year period. To establish the frequency of threshold ROP. Consecutive case series. All patients who had laser treatment for ROP at The Royal Women's Hospital, Melbourne, Australia, between January 1992 and July 2001 were prospectively recorded in a database. Their medical charts were retrospectively reviewed. Baseline birthweight, gestational age at birth, timing of treatment, and ROP severity at treatment were recorded. The main outcome measures were visual acuity (significantly reduced or not), anatomic outcome and refractive error at 2 years of age (corrected for the degree of prematurity). A total of 107 eyes of 57 babies were treated with laser photocoagulation. Four children did not survive for follow-up, and 2-year follow-up data were available for 38 children (67%, 71 treated eyes). Average duration of follow-up was 26 months. Two-year visual acuity was significantly reduced in 12/71 (17%) treated eyes, and 3/38 children (8%) had significantly reduced vision in both eyes. An anatomical outcome of macular fold or worse was observed in 8/71 eyes (11%). Mean 2-year spherical equivalent refractive outcome was only minimally myopic (-0.6 D). Visual, anatomic and refractive outcomes after laser treatment for ROP were favourable, confirming that laser photocoagulation is an effective treatment for severe ROP.
Publisher: Wiley
Date: 17-08-2015
DOI: 10.1002/CNCR.29649
Abstract: Optic pathway gliomas (OPGs) are commonly noted in pediatric oncology services. Radiotherapy is effective at controlling tumors, but has many undesirable late effects, especially in patients with neurofibromatosis. Chemotherapy is commonly used to preserve vision and delay or eliminate the need for radiotherapy. Despite visual threat being a common reason to initiate chemotherapy in patients with OPG, reports of visual outcome after chemotherapy are not common and reports of long-term visual outcome are even scarcer. In a single institution, all patients with OPG who had received chemotherapy or radiotherapy between 1996 and 2013 were identified from hospital databases. Visual, treatment, and radiological data were recorded. Categorized visual acuity was the primary outcome measure. Of 43 patients identified, visual data were available for 42 patients. Approximately 14% of patients experienced an improvement in visual acuity during therapy, 9% of patients experienced a deterioration, and the remainder were stable. At a mean follow-up of 78 months, 26% of patients were legally blind. Children aged 90% of children without these risk factors.
Publisher: Informa UK Limited
Date: 2006
DOI: 10.1080/01676830600669486
Abstract: To review the clinical features, investigations, management, and outcomes of Langerhans cell histiocytosis (LCH) with ocular adnexal involvement. Retrospective, non-comparative, chart review of 30 patients with LCH involving the ocular adnexa treated at 6 major Australian hospitals. Clinical features, imaging findings, treatment, local and distant recurrence and outcome were evaluated. Twenty-four patients (80%) were male with a mean age of presentation of 9.5 years. Females presented at an earlier age (mean age 4.1 years) with more severe involvement. Eighty percent of the cases presented with periorbital swelling. Computed tomography usually showed destructive osteolytic lesions centred on the frontal bone. Twenty-four patients (80%) had unifocal, unisystem disease. From this group, none of 13 treated with excision alone had recurrence whereas 2 of 6 treated with excision followed by chemotherapy recurred. Unifocal, unisystem LCH often presents to the ophthalmologist and can usually be diagnosed on clinical and imaging grounds. Computed tomography and magnetic resonance imaging are complementary imaging studies. Biopsy is essential to confirm diagnosis. Unifocal, unisystem disease can be treated with local excision and curettage. Incomplete excision, recurrent disease or multifocal disease may require systemic chemotherapy.
Publisher: Springer Science and Business Media LLC
Date: 28-07-2018
DOI: 10.1038/EYE.2017.150
Publisher: Elsevier BV
Date: 11-2003
DOI: 10.1086/379381
Abstract: Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses approximately 650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.
Publisher: Informa UK Limited
Date: 26-06-2014
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 12-2001
DOI: 10.1097/00043426-200112000-00004
Abstract: The purpose of this study was to examine the clinical and radiologic response to carboplatin by children with progressive optic/thalamic gliomas. Between July 1997 and July 1999, 12 consecutive children were treated with monthly carboplatin for progressive optic/thalamic gliomas. Five children have completed 12 cycles of carboplatin and five children are currently receiving treatment. Two children had progressive disease noted both clinically and radiologically. Nine children have stable radiologic disease and one child has had a partial radiologic response to chemotherapy. Eight children have had regular visual assessments. Four children (three with stable radiology and one with a partial radiologic response) have had improvement in their vision. Three children with radiologically stable disease have had no change in vision. One child has had deterioration in vision despite radiologically stable disease. The results suggest that the clinical response of optic/thalamic gliomas to carboplatin, as measured by visual acuity and visual fields, may be better than predicted by radiologic assessment. These data suggest that a prospective clinical study is warranted of the role of carboplatin in children with progressive optic/thalamic gliomas and visual impairment.
Publisher: American Medical Association (AMA)
Date: 12-2003
Publisher: Elsevier BV
Date: 06-2008
DOI: 10.1016/J.PEDIATRNEUROL.2008.02.003
Abstract: To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Australia. Nystagmus or roving eye movements were the most common ophthalmologic manifestations as a presenting symptom of disease (13/20) and were the sole manifestation at presentation in 10/13 patients. Divergent strabismus was a presenting symptom in 5/20 patients and was the sole manifestation at presentation in 3/20 patients. Abnormal eye movements were noted in 6 patients and strabismus was noted in 4 patients with Leigh's or Leigh-like disease in 9 of these 10 patients, Leigh's disease was the result of complex I deficiency. Altogether, ophthalmologic manifestations were noted at presentation in 12/35 patients with complex I deficiency. External ophthalmoplegia in conjunction with ptosis was the presenting symptom in 3/20 patients, all with Kearns-Sayers syndrome. Patients suspected of having oxidative phosphorylation disorders should be referred for ophthalmologic examination. Prospective studies are needed for a comprehensive elucidation of the ophthalmologic findings in these disorders.
Publisher: Elsevier BV
Date: 11-2021
No related grants have been discovered for James Elder.