You searched for "Genetics"
Intraocular Inflammation
Intraocular Inflammation is an encyclopedic treatise on uveitis. The editors have invited several experts in the field to author different chapters and provide the reader with an excellent repository of knowledge, experience and evidence on the subject. The approach to...
Vaughan and Asbury’s General Ophthalmology (19th edition)
Vaughan and Asbury’s General Ophthalmology (19th edition) is the latest update of this classic ophthalmology textbook that has been around for nearly 60 years. Written by British, American and Canadian authors, this book is intended for an international readership and...
The Duke Elder Exam of Ophthalmology: A Comprehensive Guide for Success
The Duke Elder Exam is an annual competitive national undergraduate exam organised by the Royal College of Ophthalmologists. This two-hour exam consists of 90 multiple-choice questions (MCQs) and examines clinical ophthalmology, ocular physiology, anatomy, pathology, genetics and socio-economic medicine related...
CD40L activation of human RPE cells
Age-related macular degeneration (AMD) is the leading cause of reduced visual acuity in the elderly worldwide. The risk factors involved in AMD include smoking and diet, while genetics have been shown to have a significant role. Recently a link between...
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...A short survey of the views of clinicians on the role of procedure-specific consent forms
Informed consent is an ethical and legal right of every patient [1]. It is essential that patients receive clear, concise and accurate information regarding the risks, benefits and alternatives to a potential intervention. In addition to this, the patient must...
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...
