You searched for "genetics"
Patient reported outcomes in adolescents with inherited retinal diseases
This was a two-centre validation study of two sets of patient reported outcome measures (PROMS) for adolescents (13-17- years-old) with inherited retinal diseases. The measures were the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-Related Anxiety Questionnaire (MVAQ). Both...
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...
Transcriptomic and regulatory gene associations in open angle glaucoma
The authors report a study utilising a publicly available whole exome sequencing dataset of 28 patients with primary open angle glaucoma (POAG) and seven healthy control patients, and a transcriptomic dataset from the trabecular meshwork of four POAG patients and...
Ocular sequalae of spinal muscular atrophy
The authors present a retrospective single-centre cohort study of patients with spinal muscular atrophy – a neurodegenerative disorder presenting between infancy and early adulthood. Forty-eight patients were included in total, with roughly equal numbers of types 1, 2 and 3...
Ocular sequalae of spinal muscular atrophy
he authors present a retrospective single-centre cohort study of patients with spinal muscular atrophy – a neurodegenerative disorder presenting between infancy and early adulthood. Forty-eight patients were included in total, with roughly equal numbers of types 1, 2 and 3...Retina UK Annual Conference 2025
The Retina UK Conference is an excellent opportunity to find out the latest news from Retina UK, hear from expert speakers, meet other members of our community and to make new connections. The line-up for their 50th anniversary year conference...NEOS (North Of England Ophthalmological Society) Spring Meeting 2024
by Matthew Hartley, Trainee, Northern Deanery, UK. In NEOS’ 110th year, the spring meeting was held in Doncaster and centred around ocular oncology and vitreoretinal surgery. The meeting hosts, Umi Harley and Steve Winder from Royal Hallamshire Hospital, arranged a...
Nystagmus and associated diagnosis
Patients with nystagmus attending a Low Vision clinic in Sweden were included in this study. Medical records were reviewed to exclude those with general diagnoses that could explain the nystagmus. The remaining group of patients underwent subjective refraction, retinoscopy, ocular...
Features of idiopathic versus non-idiopathic ocular motor apraxia
The aim of this study was to describe the characteristics and outcomes of ocular motor apraxia (OMA) in a paediatric neuro-ophthalmology clinic over 10 years. This was a retrospective case review and included 37 patients of which 46% were idiopathic...
