You searched for "genetic"
New webinar series on sight loss and genomic research
A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.Twenty-five years in retina
In the next of our articles celebrating 25 years of Eye News, the authors look at how the retina specialty has changed over this time and ask what the future might hold. Retinal disease management has benefited from great advances...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...
Retinopathy of prematurity
This review article describes the pathophysiology of retinopathy of prematurity (ROP). The authors start by introducing the condition and its incidence. There is extensive information on the pathophysiology mechanisms involved in the condition to include normal and pathological retinal development....
Understanding retinal ciliopathy through Bardet-Biedl syndrome
This is a review article looking at up-to-date understanding and ongoing research in retinal ciliopathies. Syndromic ciliopathies consist of a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis. These disorders have multiorgan involvement in addition to retinal degeneration...
A to Z of X-linked retinopathies
This review article provides an excellent summary of X-linked retinopathies and the corresponding genotype and clinical features. The authors provide a comprehensive overview of each condition in terms of its pathogenesis, clinical features, imaging findings, electrophysiology changes and any current...
Age-related macular degeneration
This review article offers an up to date review of the genetic and environmental risk factors associated with aetiology surrounding age-related macular degeneration (AMD). The article briefly describes the typical clinical presentation relating to early and late stages of the...
Functional visual field loss using automated static perimetry
Functional visual field loss is traditionally assessed by kinetic perimetry, typically producing spiralling isopters. This study looked at the spatial distributions of functional field deficits using automated static perimetry. A retrospective review of automated perimetry records was conducted using a...
Basic and Clinical Science Course: Fundamentals and Principles of Ophthalmology 2019-2020 (updated textbooks)
The American Academy of Ophthalmology (AAO) has updated a few more books for the 2019-2020 version of their textbooks. They come with the same clean matt finish, but the colour scheme is a bright sunshine yellow instead of green. Although...
Effects of ML4 on the eye
Mucolipidosis type IV (ML4) is an autosomal recessive lysosomal storage disease and is caused by variants of the MC0LN1 gene. It often presents in young individuals with eye and ocular adnexa issues. The authors present a case report and literature...
