Dr Sandra Staffieri AO

Research Fellow, Clinical Orthoptist

BAppSc (Orth), DipFlMn, PhD

Dr Sandra Staffieri AO is a Research Fellow at CERA and Manager, Retinoblastoma Service/Senior Clinical Orthoptist at the Royal Children’s Hospital, Victoria.

Her research focus includes hereditary eye diseases: congenital glaucoma, congenital cataract, eye movement disorders, Leber Hereditary Optic Neuropathy (LHON) and retinoblastoma.

Dr Staffieri completed her PhD at CERA, University of Melbourne. With the aim of reducing delayed diagnosis of retinoblastoma (eye cancer in children), her study included the development and evaluation of an information pamphlet for new parents describing important early signs of eye problems in children.

The outcomes of her doctoral research studies have been incorporated into the infant health book provided to each parent “My Health, Learning and Development” as well as the Maternal Child Health App in Victoria.

Dr Sandra Staffieri AO was invited to give the Fred Hollows Lecture at RANZCO 2025, where she presented her decades-long career in retinoblastoma – expanding into global health and supporting awareness programs and teaching in low-middle income countries in Oceania.

Key research questions

Understanding the genes that cause genetic eye diseases: cataract, glaucoma, eye movement disorders and retinoblastoma
Raising awareness of signs of eye disease in children to improve outcomes
Surveillance and screening for retinoblastoma and congenital cataract
Psychosocial impact of treatment for childhood eye disease
Retinoblastoma survivorship – health, wellbeing and long-term surveillance

Current projects

Selected publications

Key collaborators

Funding and support

Current projects

LHON Lived Experience Study: Dr Staffieri is the Principal Investigator for this study which explores the lived experience of people directly or indirectly affected by LHON. This included: people with LHON-related vision loss, people who carry a LHON-related gene variant and are at risk of losing vision, mothers who pass on the LHON-related gene variant and other people/family members who support a person with LHON-related vision loss.

EYE-GEN Study: Dr Staffieri is a Co-principal investigator for this study which explores the experiences of genetic testing for parents of a child or an individual with congenital glaucoma, congenital cataracts or retinoblastoma. This is a collaborative study with researchers from Flinders University (Dr Emmanuelle Souzeau, Dr Lachlan Wheelhouse-Knight and PhD candidate Giorgina Maxwell)

Selected publications

Rolfe L, Elder JE, McKenzie JD, … Staffieri SE*, O’Day RF*.The Burden of Treatment for Sporadic Unilateral Retinoblastoma in Australia Clin Exp Ophthalmol 2025 Nov 20. doi: 10.1111/ceo.70031. *equal Senior Authorship

Lou S, Carstensen K, Mikkelsen PA,…Staffieri SE, Gregersen PA. At the epicentre: A qualitative study of how parens of a child with de novo retinoblastoma experience the diagnostic process and primary treatment. BMJ Open 2025;15(11):e106738. doi: 10.1136/bmjopen-2025-106738

Kearns LS, Staffieri SE, Mackey DA. Leber Hereditary Optic Neuropathy: Support, genetic prediction and accurate genetic counselling enhance family planning choices. (Clin Exp Ophthalmol. 2025 Apr;53(3):292-301.)

Raj TAS, Harrison J, Wakefield CE, …, Staffieri SE*, Anga G*. Building capacity to treat childhood cancer in Papua New Guinea: ‘It’s a multidisciplinary village’. J Glob Health. 2025 Feb 14;15:03008. doi: 10.7189/jogh.15.03008. PMID: 39946562; PMCID: PMC11825119 *equal Senior Authorship

Mackey DA, Staffieri SE, Lopez Sanchez MI, Kearns LS. Family and genetic counseling in Leber hereditary optic neuropathy. Ophthalmic Genet 2025 Jan 20:1-9. doi: 10.1080/13816810.2025.2451175.

Mackey DA, Bigirimana D., Staffieri SE. Integrating genetics in glaucoma screening. J Glaucoma 2024 Aug 19;33(8 Suppl 1):S49–S53

Mackey DA, Staffieri SE. Making glaucoma genetic studies more diverse. Cell 2024;187(2):273-275 (Editorial)

Schofield D, Zeppel MJB, Staffieri SE, et al. Cost-effectiveness of the use of preimplantation genetic diagnosis for retinoblastoma survivors. Reproductive Biomedicine & Society Online 2020;10:37-45 https://doi.org/10.1016/j.rbms.2020.03.001

Staffieri SE, Rees G, Sanfilippo PG, et al. Improving parents’ knowledge of early signs of paediatric eye disease: A double-blind randomised control trial. Clin Exp Ophthalmol. 2020 Dec;48(9):1250-1260 doi: 10.1111/ceo.13866.

Staffieri SE, Kearns LS, Sanfilippo PG, et al. Crowd-sourced ontology for photo-leukocoria: Identifying common internet search terms for a potentially important pediatric sign. Transl.Vis.Sci.Technol. 2018 Feb;7(1):18. Published online 2018 Feb 15. doi: 10.1167/tvst.7.1.18

Staffieri SE, McGillivray G, Elder JE, et al. Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI. Prenat Diagn. 2015; 35(2):174-8.

Staffieri S, Ruddle J, Kearns L, et al. A telemedicine model to prevent blindness from familial glaucoma. Clin Exp Ophthalmol. 2011; 39(8):760-5 DOI: 10.1111/j.1442-9071.2011.02556.x

Staffieri SE, Mackey DA, Rock, Paper & Scissors – Paediatric Traumatic Cataract in Victoria 1992-2006. Clin Exp Ophthalmol. 2010; 38:237-2. DOI: 10.1111/j.1442-9071.2010.02236.x

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