Dr Jonathan Ruddle
Honorary (Senior Fellow)
Department of Surgery
122 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series
DOI: 10.1159/0005498742025
Journal article
Characterising microstructural retinal changes in children with inherited retinal dystrophies – a retrospective observational cross-sectional study
DOI: 10.1007/s00417-025-06983-72025
Journal article
Three-year outcomes of a multidisciplinary ocular genetics clinic: Diagnostic yield and workflow insights from an Australian tertiary center
DOI: 10.1016/j.ajoint.2025.1001632025
Journal article
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
DOI: 10.1016/j.ophtha.2025.02.0132025
Journal article
Paediatric glaucoma in Stickler syndromes: A comprehensive review of prevalence, comorbidities and outcomes
DOI: 10.1136/bmjophth-2025-0021382022
Journal article
Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics
DOI: 10.1111/ceo.141102018
Research Grant
Translation of Glaucoma Blindness Genes to Improve Clinical Practice
RECENT SCHOLARLY WORKS
2024
Journal article
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey
DOI: 10.1038/s41598-024-56121-22024
Conference Proceedings
Audit of Inherited Retinal Disease Prevalence in an Australian Multidisciplinary Ocular Genetics Clinic
2024
Journal article
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients
DOI: 10.1167/iovs.65.5.222024
Journal article
Optical coherence tomography in children with inherited retinal disease
DOI: 10.1080/08164622.2023.22948072023
Journal article
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
DOI: 10.1016/j.ajhg.2022.11.014