Researchers at the Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, have reported results on the prevalence of disease-causing variants in LCA-associated genes… Read More »Clinical and genetic profile of retinopathies among LCA patients in a large German cohort.
International clinical researchers at several collaborating institutes, from Pennsylvania to Istanbul, have reported results on the genetic contribution of the HLA-B/MICA genetic region to the… Read More »Genetic analysis in Behçet’s disease identifies novel loci associated with ocular and neurological involvement.
Researchers led by clinical scientists at the Department of Clinical Neurosciences, University of Oxford, UK, has reported that, previously, there have been no disease-specific instruments… Read More »Two new RP/LCA-specific instruments have reported strong evidence for psychometric validity on measures with RP/LCA adults and caregivers of children.
Researchers at the Department of Ophthalmology, Copenhagen University Hospital – Rigshospitalet-Glostrup, Denmark, has reported a long-term follow-up study on the natural history of PRPF31-related retinitis… Read More »A 36-year follow up study on retinitis pigmentosa (RP) patients with a Nordic population of RP11 / PRPF31.
Researchers at the Department of Ophthalmology, Zealand University Hospital and the University of Copenhagen, Denmark have found that Danish patients with geographic atrophy (GA) have… Read More »Geographic atrophy (GA) patients report quality of life (QoL) results on visual acuity and lesion size in a Danish cohort
Researchers at the Ophthalmology Unit, Fondazione Policlinico Universitario Agostino in Rome, has reported that pathogenic variants in the eyes shut homolog (EYS) gene are estimated… Read More »Retinitis pigmentosa arising from EYS gene mutations have reported novel insights from combined measurements for a RP stage score system (RP-SSS)
Researchers, clinicians and patients & families are to support a workshop in La Jolla, San Diego (March 29th-31st) for those focused on finding treatments on… Read More »A Peripherin 2 (Prph2) retinal disease workshop is scheduled with international researchers, clinicians and patients, supported by Foundation Fighting Blindness
Researchers have announced recruitment of the first patient in a clinical trial of a an experimental AAV gene therapy for the treatment of X-linked retinitis… Read More »A phase I/II study has announced the recruitment of the first patient for a novel AAV-RPGR treatment for X-linked retinitis pigmentosa.
Researchers at the Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, have reported that outcome measures for future clinical trials should include evaluations… Read More »Outcome measures for future trials for autosomal dominant vitelliform macular dystrophy caused by BEST1 mutations.
Researchers at the UCL Institute of Ophthalmology, London and Moorfields Eye Hospital NHS Foundation Trust has reported a novel history of RP2 mutations arising from… Read More »A natural history of XLRP from RP2 mutations aim to facilitate trial endpoints for future clinical studies.
