We investigate the genetic causes of blinding eye diseases to improve diagnosis and develop new treatments. With an international reputation in inherited retinal diseases (IRDs) such as retinitis pigmentosa, Stargardt disease, cone-rod dystrophies, and macular dystrophies, we are committed to advancing ocular gene therapy.
Our researchers collaborate closely with the NSW Ocular Gene and Cell Therapy Australia team for clinical gene therapy delivery and lead clinical trials that pave the way for therapies in Australia.
Our work also includes cataracts, anterior segment anomalies, childhood glaucoma, and developmental eye disorders, combining genomic investigations and model systems to understand disease mechanisms and develop targeted treatments.
Inherited retinal diseases (IRDs) are a major cause of vision loss in working-age adults, affecting more than two million people globally.
These disorders are genetically heterogeneous and often slowly progressive, which presents both diagnostic and therapeutic challenges.
Our research focuses on detailed phenotyping, genetic analysis, stem cell-derived retinal models, and development of clinical biomarkers to better understand these conditions and support emerging therapies. Functional testing and multimodal imaging are key tools in evaluating disease progression, informing clinical trial readiness, and guiding precision care.
Inherited eye diseases, including retinal and developmental disorders, are highly genetically diverse. Despite advances in sequencing technology, many patients remain without a molecular diagnosis, often due to variants in previously unknown genes or atypical presentations of known genes.
Discovering and characterising new disease genes is critical for improving diagnostic yield, enabling reproductive counselling, and informing targeted therapeutic development. Our group integrates whole genome and exome sequencing with functional studies in cell and animal models to advance this field.
Clinical team:
Patient Care Coordinator: Lorraine Villaret
Electrophysiology team:
Clinical Molecular and Genetic liaison team:
Laboratory/Molecular/Research Counsellor team (Children’s Medical Research Institute and Sydney Children’s Hospitals Network):
Over the past five years, the Eye Genetics and Inherited Retinal Disease Group has produced a substantial body of work furthering understanding of inherited retinal dystrophies through clinical, genomic, and translational research.
This includes natural history studies, biomarker development, clinical outcome measures, and patient-centred research to support emerging therapies.
Together, these contributions strengthen the translational pipeline from gene discovery to therapy readiness and patient care, reinforcing the group’s reputation as a leader in inherited retinal disease research.
Clinical team:
Patient Care Coordinator: Lorraine Villaret
Electrophysiology team:
Clinical Molecular and Genetic liaison team:
Laboratory/Molecular/Research Counsellor team (Children’s Medical Research Institute and Sydney Children’s Hospitals Network):
Clinical trials are essential for developing and delivering effective treatments for inherited retinal diseases (IRDs). These conditions often progress slowly, requiring sensitive and standardised outcome measures to assess therapeutic effects.
Our group is actively involved in both investigator-led and industry-sponsored clinical trials, supported by advanced imaging, electrophysiology, and patient-centred metrics. We collaborate with local and global partners to ensure readiness for trial participation and to help translate research into therapies.
Clinical team:
Patient Care Coordinator: Lorraine Villaret
Electrophysiology team:
Clinical Molecular and Genetic liaison team:
Laboratory/Molecular/Research Counsellor team (Children’s Medical Research Institute and Sydney Children’s Hospitals Network):
Email
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Mailing address
South Block, Sydney Eye Hospital
8 Macquarie Street
Sydney, NSW 2000
