You searched for "Gene"
FEVR characteristics
The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12...
Driving with retinitis pigmentosa
The authors present a study of 228 consecutive patients with a clinical or genetic diagnosis of retinitis pigmentosa. Data was collected prospectively between January 2012 and October 2022 in Perth, Australia. The study aimed to determine the proportion of patients...
PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
Could idebenone by the solution for treating dominant optic atrophy?
Dominant optic atrophy (DOA) is a disease of the retinal ganglion cells, with no current treatment options. In most cases, DOA is caused by a mutation in the OPA1 gene. The aim of this study was to evaluate the effect...
Choroideremia in women
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....From spine to eye: The benefits of multidisciplinary research
What have spinal and vision research got in common? More than you’d think. Dr Richard Eva. Funded by Fight for Sight, Dr Richard Eva came to vision from spinal cord research and is now co-lead on a project related to...
