ORCID Profile
0000-0001-9756-1098
Current Organisations
Eye Surgery Associates
,
Melbourne Health
,
University of Melbourne
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Publisher: Wiley
Date: 29-07-2020
DOI: 10.1111/TCT.13208
Publisher: Wiley
Date: 11-1992
DOI: 10.1111/J.1442-9071.1992.TB00748.X
Abstract: A 52-year-old Caucasian woman with pigmentary glaucoma underwent a left cyclodiathermy procedure for raised intraocular pressure (IOP) in 1962 and right sclerectomy the following year. Over 25 years later a low IOP was still maintained though pilocarpine was needed in the left eye. After a left cataract extraction with insertion of a posterior chamber lens, field loss had not progressed very much in either eye though the visual acuity was reduced in the more affected eye. Both drainage operation and a cyclodestructive procedure controlled IOP over a long period of time in this patient and were associated with only a very gradual progression of field loss.
Publisher: Elsevier BV
Date: 07-2012
DOI: 10.1016/J.JOCN.2012.01.009
Abstract: Orbital compartment syndrome (OCS) is a rare cause of blindness following intracranial surgery. We report a patient with OCS following intracranial cerebrovascular surgery precipitated by severe straining. OCS occurred due to a rapid increase in intraorbital pressure within the rigid confines of the orbit causing hypoperfusion of critical neural structures, which resulted in visual loss and a complete external ophthalmoplegia. Treatment involved urgent surgical soft tissue decompression of the orbit, corticosteroids and osmotic agents. It is important to consider OCS as a cause of blindness in the neurosurgical postoperative setting as without rapid treatment this condition has a very poor prognosis.
Publisher: Informa UK Limited
Date: 15-01-2023
Publisher: Elsevier BV
Date: 09-2023
Publisher: BMJ
Date: 06-2021
DOI: 10.1136/BMJOPEN-2020-048361
Abstract: Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrophy (predominantly Leber congenital amaurosis). Previous studies have shown that in iduals who might participate in gene therapy trials overestimate clinical effect and underestimate risks. However, little is known about the perspectives of patients who may be offered approved gene therapy treatment for ocular conditions (as distinct from participating in clinical trials of gene therapy). The main objective of this study is to develop a tool to assess knowledge, attitudes and perceptions of approved and future genetic therapies among potential recipients of ocular gene therapy. In addition, we aim to assess the quality of life, attitudes towards clinical trials and vision-related quality of life among this cohort. A new ‘Attitudes to Gene Therapy for the Eye’ tool will be developed following consultation with people with inherited retinal disease (IRD) and content matter experts. Australians with IRD or their guardians will be asked to complete an internet-based survey comprising existing quality of life and visual function instruments and items for the newly proposed tool. We expect to recruit 500 survey participants from patient support groups, the practices of Australian ophthalmologists who are specialists in IRD and Australian ophthalmic research institutions. Launch is anticipated early 2021. Responses will be analysed using item response theory methodology. This study has received ethics approval from the University of Melbourne (#2057534). The results of the study will be published in a peer-reviewed journal and will be presented at relevant conferences. Organisations involved in recruitment, and the Patient Engagement Advisory committee will assist the research team with dissemination of the study outcomes.
Publisher: Informa UK Limited
Date: 26-08-2021
Publisher: Informa UK Limited
Date: 12-07-2021
Publisher: Informa UK Limited
Date: 06-06-2022
DOI: 10.1080/13816810.2022.2083184
Abstract: To describe and compare the systemic and ocular findings in two siblings with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), one treated with recombinant galsulfase, and one who was untreated. One female patient aged 33 years (case 1) who had received galsulfase enzyme replacement therapy for 11 years, and her younger male sibling by 3 years (case 2), who had declined systemic treatment, underwent clinical ophthalmic examination and retinal ocular coherence tomography. The female sibling underwent electrophysiology testing of visual function. Case 1 had best corrected visual acuity right 6/4.8 and left 6/6. Case 2 had best corrected visual acuity of 6/6 in each eye. Case 1 had bilateral mild corneal haze and a clinically unremarkable posterior segment examination. Case 2 had bilateral very mild corneal haze and retinal striae on examination. Ocular coherence tomography showed choroidal folds at the maculae in both patients, more pronounced in Case 2, who also had retinal folds and epiretinal membrane. Electroretinography showed very mild involvement of the rods only in Case 1. These two siblings with mucopolysaccharidosis type VI, one treated and one untreated, displayed variable levels of systemic, corneal, and chorioretinal involvement in their disease Further studies of choroidal changes in MPS VI may prove useful as a biomarker of ocular response to treatment outside the blood-retina barrier. Both patients have provided written consent to publish case details.
Publisher: Wiley
Date: 20-05-2022
DOI: 10.5694/MJA2.51562
Publisher: Wiley
Date: 19-10-2020
DOI: 10.1111/TCT.13261
Publisher: AMPCo
Date: 10-2016
DOI: 10.5694/MJA16.00743
Publisher: Informa UK Limited
Date: 29-12-2023
Publisher: Informa UK Limited
Date: 03-2020
DOI: 10.1111/CXO.12904
Abstract: Tumour necrosis factor alpha inhibitors are a relatively recent development and are becoming increasingly common in the management of many chronic inflammatory conditions such as rheumatoid arthritis, inflammatory bowel disease, ankylosing spondylitis and juvenile idiopathic arthritis. However, their ocular side effect profile is incomplete and poorly recognised, with mostly anecdotal cases reported in the literature. In this report we review the literature regarding ocular side effects associated with tumour necrosis factor alpha blockade.
Publisher: Ubiquity Press, Ltd.
Date: 29-03-2016
Publisher: Informa UK Limited
Date: 04-2022
DOI: 10.2147/OPTH.S353787
Publisher: Springer Science and Business Media LLC
Date: 02-10-2023
DOI: 10.1038/S41434-022-00364-Z
Abstract: Many gene therapies are in development for treating people with inherited retinal diseases (IRD). We hypothesized that potential recipients of gene therapy would have knowledge gaps regarding treatment. We aimed to assess knowledge, attitudes, and perceptions of genetic therapies among potential recipients with IRD, using a novel instrument we designed (Attitudes to Gene Therapy-Eye (AGT-Eye)) and their associations with demographic data, self-reported visual status, and tools assessing quality of life and attitudes toward clinical trials using a community-based cross-sectional survey of Australian adults with IRD. AGT-Eye, overall quality of life EQ-5D-5L, National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25) and Patient Attitudes to Clinical Trials (PACT-22) instruments were administered. Six hundred and eighty-one people completed the study, 51.7% women of mean age 53.5 years (SD ± 15.8). Most participants (91.6%) indicated they would likely accept gene therapy if it was available to them or family members. However, only 28.3% agreed that they had good knowledge of gene therapy. Most obtained information about gene therapy from the internet (49.3%). Respondents with post-graduate degrees scored highest compared to other educational levels on methods ( p 0.001) and outcomes ( p = 0.003) and were more likely to see economic value of treatment ( p = 0.043). Knowledge gaps were present regarding methods and outcomes of gene therapy. This survey has shown high level of interest in the IRD community for gene therapies, and highlights areas for improved clinician and patient education.
Publisher: Wiley
Date: 16-09-2020
DOI: 10.1111/CEO.13853
Publisher: Elsevier BV
Date: 2015
Publisher: S. Karger AG
Date: 2017
DOI: 10.1159/000479452
Abstract: Fingolimod ist ein oral einzunehmender Modulator des Sphingosin-1-Phosphat-(S1P-)Rezeptors und die erste orale Therapie für schubförmige multiple Sklerose. Als Komplikation tritt bei einem geringen Anteil der Patienten ein zystoides Makulaödem auf, meist in den ersten 3 Monaten nach Therapiebeginn. Wir berichten hier über den Fall eines 34-jährigen männlichen Patienten mit schubförmiger multipler Sklerose, bei dem an Tag 5 der Behandlung mit Fingolimod eine akute Uveitis anterior auftrat. Entsprechende Behandlungsmaßnahmen und Absetzen des Arzneimittels zeigten zunächst Wirkung, im weiteren Verlauf entwickelte sich jedoch eine geringgradige chronische Uveitis anterior ohne zystoides Makulaödem. Wir diskutieren mögliche Entstehungsmechanismen der Uveitis in dieser Patientengruppe. Bei Patienten, die mit Fingolimod behandelt werden und bei denen innerhalb von 5 Tagen nach Behandlungsbeginn Schmerzen und Rötung des Auges auftreten, wird eine sofortige augenärztliche Untersuchung empfohlen. Übersetzung aus Case Rep Ophthalmol 2016 :284-288 (DOI: 10.1159/000453392)
Publisher: Informa UK Limited
Date: 08-12-2022
DOI: 10.1080/08164622.2021.2003691
Abstract: The complement system is part of the innate immune system activated by three distinct pathways: classical, lectin and alternative. It is also involved in retinal development and homoeostasis. Dense deposit disease is a rare renal disease associated with mutations in
Publisher: Elsevier BV
Date: 03-2018
Publisher: S. Karger AG
Date: 26-02-2019
DOI: 10.1159/000496142
Abstract: We describe the case of a 65-year-old man who suffered progressive visual loss despite appropriate treatment of ocular syphilis. Our patient initially presented with a unilateral 6th nerve palsy and associated double vision, which self-resolved over 6 months. His ophthalmic examination was otherwise normal. 12 months after the initial complaint, he represented with dyschromatopsia, reduced visual acuity, tonic pupils, and optic nerve atrophy. He tested positive for syphilis and was admitted for treatment of neurosyphilis with high-dose benzylpenicillin. Despite treatment, at a 4-month review his visual acuity remained poor and progression of optic nerve atrophy was noted alongside the development of bilateral central scotomas. Further testing was congruent with a diagnosis of autoimmune optic retinopathy. We propose this to be secondary to his syphilitic infection. Syphilis is known as the “great mimicker,” and despite being quite treatable, this case highlights ongoing complexity in the diagnosis and management of syphilis, unfortunately with a poor visual outcome.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 04-2015
DOI: 10.2215/CJN.10581014
Publisher: Informa UK Limited
Date: 03-03-2020
Publisher: Elsevier BV
Date: 2017
Publisher: Elsevier BV
Date: 06-2016
DOI: 10.1016/J.JCJO.2016.03.008
Abstract: Continuing professional development (CPD) is part of the medical education continuum, has been shown to produce improved physician practice and good patient outcomes, and is increasingly required for revalidation of medical licensure. CPD can be considered a discipline in its own right but is the least formally organized stage in medical education. CPD educators play a central role, but there has been remarkably little published work specifically describing CPD educators. This narrative review, using ophthalmology as exemplar medical specialty, describes trends affecting CPD educators and their sources, attributes, and development needs, mainly extrapolated from information regarding other medical educators in the medical education continuum spectrum. Future research needs are discussed.
Publisher: S. Karger AG
Date: 27-08-2014
DOI: 10.1159/000366407
Abstract: The development of biopharmaceutical agents, including the interferons (IFN), offers new treatment options for a wide range of medical conditions. Such advancements, however, have not come without risk to patients. Optic neuropathy in the setting of IFN therapy has been previously documented and is usually attributed to anterior ischaemic optic neuropathy however, the pathophysiology remains poorly understood. Retrobulbar optic neuropathy associated with IFN treatment has not been described in the medical literature to date. We report the case of a 38-year-old Caucasian female with refractory acute myeloid leukaemia who developed painless bilateral blurred vision within 2 weeks of commencing a course of IFN alpha-2a. Extensive clinical workup demonstrated bilateral retrobulbar optic neuropathy. We report the clinical evaluation of this first documented case and discuss the possible aetiologies of her presentation.
Publisher: Ubiquity Press, Ltd.
Date: 2022
DOI: 10.5334/AOGH.3814
Publisher: Informa UK Limited
Date: 24-05-2018
Publisher: Wiley
Date: 28-12-2017
DOI: 10.1111/CEO.13124
Publisher: Informa UK Limited
Date: 02-08-2016
DOI: 10.1080/13816810.2016.1210648
Abstract: The retinal features of Alport syndrome include a central and peripheral fleck retinopathy, temporal retinal thinning, and a macular hole. Here we describe further retinal abnormalities. We identified a case of bull's eye maculopathy 20 years previously in a 68-year-old female, and reviewed archived retinal images from our cohort of X-linked (28 males, 28 females) or autosomal recessive (n = 13) Alport syndrome. All in iduals had Alport syndrome confirmed on genetic testing or renal biopsy, were examined by an ophthalmologist, and underwent retinal imaging (KOWA non-mydriatic camera, Japan). The index case had the p.Q379X variant in COL4A5 and currently had renal impairment, (eGFR = 45 ml/min/1.73 m The bull's eye and pigment maculopathies in Alport syndrome result mainly from the damaged Bruch's membrane and overlying retinal pigment epithelium. Bull's eye maculopathy affects vision and patients should undergo regular monitoring for retinal complications.
Publisher: Wiley
Date: 06-12-2011
DOI: 10.1111/J.1442-9071.2011.02716.X
Abstract: One of the key responsibilities of professional bodies, such as the Royal Australian and New Zealand College of Ophthalmologists, is to determine, teach and assess the competencies required for trainees to reach an expert level. Vocational training programs (VTP) need to incorporate advances in educational research and reflect changes in generational thinking and learning styles to provide the most optimal learning environment to meet the desired educational outcomes. This paper seeks to introduce some of the important concepts of adult educational theory and to explain how they connect to four strategic areas in the development and implementation of the VTP: 1 What are the learning needs of trainees? 2 What educational methods best address these needs? 3 What assessment methods best test the acquisition of the desired learning outcomes? 4 What are the needs of supervisors and teachers?
Publisher: Wiley
Date: 05-05-2014
DOI: 10.1111/CEO.12335
Publisher: S. Karger AG
Date: 08-12-2016
DOI: 10.1159/000453392
Abstract: Fingolimod is an oral sphingosine-1-phosphate (S1P) receptor modulator and the first oral therapy for relapsing-remitting multiple sclerosis. Its use has been complicated by a low rate of cystoid macular edema usually in the first 3 months after commencement of the medication. We report the case of a 34-year-old male with relapsing-remitting multiple sclerosis, who developed acute anterior uveitis on day 5 of fingolimod treatment. He responded to appropriate treatment and cessation of drug, but developed low-grade chronic anterior uveitis without cystoid macular edema. We discuss possible mechanisms of uveitis onset in this group of patients. Urgent ophthalmological review is recommended for patients receiving fingolimod therapy who develop a red, painful eye, which may occur within 5 days of fingolimod treatment initiation.
Publisher: Informa UK Limited
Date: 25-02-2016
DOI: 10.3109/13816810.2015.1101777
Abstract: Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations. This study describes the retinal abnormalities in dense deposit disease and, for the first time, atypical haemolytic uremic syndrome. It also reviews our understanding of drusen pathogenesis and their relevance for glomerular disease. Six in iduals with dense deposit disease and one with atypical haemolytic uremic syndrome were studied from 2 to 40 years after presentation. Five had renal transplants. All four who had genetic testing had CFH mutations. In iduals underwent ophthalmological review and retinal photography, and in some cases, optical coherence tomography, and further tests of retinal function. All subjects with dense deposit disease had impaired night vision and retinal drusen or whitish-yellow deposits. Retinal atrophy, pigmentation, and hemorrhage were common. In late disease, peripheral vision was restricted, central vision was distorted, and there were scotoma from sub-retinal choroidal neovascular membranes and atypical serous retinopathy. Drusen were present but less prominent in the young person with atypical uremic syndrome due to a heterozygous CFH mutation. Drusen are common in forms of C3 glomerulopathy caused by compound heterozygous or heterozygous CFH mutations. They are useful diagnostically but also impair vision. Drusen have an identical composition to glomerular deposits. They are also identical to the drusen of age-related macular degeneration, and may respond to the same treatments. In iduals with a C3 glomerulopathy should be assessed ophthalmologically at diagnosis, and monitored regularly for vision-threatening complications.
Location: United States of America
Location: Australia
No related grants have been discovered for Heather Mack.