Publications by authors named "J B Ruddle"
Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in the PRPH2 gene.
Methods: A total of 241 patients from 168 families across 15 sites in 9 countries with pathogenic or likely pathogenic variants in PRPH2 were included. Records were reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, fundus autofluorescence (FAF), and SD-OCT.
This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy.
View Article and Find Full Text PDFRecent advances have led to therapeutic options becoming available for people with inherited retinal disease. In particular, gene therapy has been shown to hold great promise for slowing vision loss from inherited retinal disease. Recent studies suggest that gene therapy is likely to be most effective when implemented early in the disease process, making consideration of paediatric populations important.
View Article and Find Full Text PDFPurpose: To conduct a costing study comparing orthoptist-led with consultant-led clinics screening for optic pathway gliomas (OPGs) in children with neurofibromatosis Type 1 (NF1) attending the Royal Children's Hospital (RCH), Melbourne.
Methods: Patients with NF1 examined in the orthoptist-led NF1 screening clinic and/or consultant-led clinics during the study period were identified. The workflow management software Q-Flow 6® provided data documenting patient's time spent with the orthoptist, nurse, and ophthalmologist.
Article Synopsis
- A significant number of family members with Leber hereditary optic neuropathy (LHON) who have a risk variant do not experience vision loss, indicating a low penetrance of the condition.
- Mitochondrial haplotypes are crucial in determining the likelihood of vision loss related to LHON, with specific variants being common in the general population.
- The paper discusses findings that suggest a correlation between certain mitochondrial subclades and reduced risk of severe vision impairment, while addressing points raised in a related research publication.