Jonathan B. Ruddle - Publications

Association of FOXC1 Duplications With Juvenile Open-Angle Glaucoma.

Journal: JAMA ophthalmology

Published: May 07, 2026

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Journal: Case reports in ophthalmology

Published: November 03, 2025

Characterising microstructural retinal changes in children with inherited retinal dystrophies - a retrospective observational cross-sectional study.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: April 11, 2025

Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes.

Journal: BMJ open ophthalmology

Published: January 06, 2025

A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation.

Journal: Ophthalmology

Published: September 26, 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Journal: Investigative ophthalmology & visual science

Published: May 14, 2024

Optical coherence tomography in children with inherited retinal disease.

Journal: Clinical & experimental optometry

Published: January 22, 2024

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.

Journal: Scientific reports

Published: July 12, 2023

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

Journal: American journal of human genetics

Published: October 08, 2022

Cost Analysis of Orthoptist-Led Neurofibromatosis Type 1 Screening Clinics.

Journal: The British and Irish orthoptic journal

Published: September 14, 2022

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Journal: BMJ open ophthalmology

Published: May 11, 2022

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons.

Journal: Disease models & mechanisms

Published: May 10, 2022