Heather Mack

Faculty Development of CPD Teachers in Low-Resource Environments Post-COVID-19.

Heather Mack, Karl Golnik, Helena Prior Filipe

Journal article  |  2023  |  J CME

KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV alpha 3 and alpha 4 chains

Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G Mack, Judy Savige

Journal article  |  2022  |  OPHTHALMIC GENETICS

INTRODUCTION: Scalp-Ear-Nipple syndrome is caused by pathogenic KCTD1 variants and characterised by a scalp defect, prominent ears..

Corneal ulcers in general practice.

Heather G Mack, Amberin Fazal, Stephanie Watson

Journal article  |  2022  |  Aust J Gen Pract

BACKGROUND: Patients frequently present to general practitioners (GPs) with discomfort and a red eye due to corneal ulceration, de..

Increased retinal drusen in IgA glomerulonephritis are further evidence for complement activation in disease pathogenesis.

P Harraka, Tony Wightman, Sarah Akom, Kieran Sandhu, Deb Colville, Andrew Catran, David Langsford, Timothy Pianta, David Barit, Frank Ierino, Alison Skene, Heather Mack, Judy Savige

Journal article  |  2022  |  Sci Rep

Drusen are retinal deposits comprising cell debris, immune material and complement that are characteristic of macular degeneration..

Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia

Heather G Mack, Alexis Ceecee Britten-Jones, Myra B McGuinness, Fred K Chen, John R Grigg, Robyn V Jamieson, Thomas L Edwards, John De Roach, Fleur O'Hare, Keith R Martin, Lauren N Ayton

Journal article  |  2022  |  GENE THERAPY

Many gene therapies are in development for treating people with inherited retinal diseases (IRD). We hypothesized that potential r..

How toxic is an old friend? A review of the safety of hydroxychloroquine in clinical practice

Jessica L Fairley, Mandana Nikpour, Heather G Mack, Maria Brosnan, Amanda M Saracino, Marc Pellegrini, Ian P Wicks

Journal article  |  2022  |  INTERNAL MEDICINE JOURNAL

Hydroxychloroquine (HCQ) and its close relative chloroquine (CQ) were initially used as antimalarial agents but are now widely pre..

Retinal drusen counts are increased in inflammatory bowel disease, and with longer disease duration, more complications and associated IgA glomerulonephritis.

E Nicklason, Y Ham, D Ng, S Glance, K Abel, P Harraka, H Mack, D Colville, J Savige

Journal article  |  2022  |  Sci Rep

Retinal drusen are deposits of inflammatory proteins that are found in macular degeneration and glomerulonephritis and result, in ..

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

Mark Stevenson, Alistair T Pagnamenta, Heather G Mack, Judith Savige, Edoardo Giacopuzzi, Kate E Lines, Jenny C Taylor, Rajesh V Thakker

Journal article  |  2022  |  J Endocr Soc

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorptio..

Taking a broader view of the health care needs of people with chronic kidney disease

Heather G Mack, Deborah J Colville, Judith A Savige

Journal article  |  2022  |  MEDICAL JOURNAL OF AUSTRALIA

Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI

Tanya Kowalski, Sarah Donoghue, Gerard de Jong, Heather G Mack

Journal article  |  2022  |  OPHTHALMIC GENETICS

PURPOSE: To describe and compare the systemic and ocular findings in two siblings with mucopolysaccharidosis type VI (Maroteaux-La..