You searched for "genetic"
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...
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....
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...
Association between serum 25-hydroxyvitamin D levels and age-related cataracts
Cataractogenesis occurs as a result of ageing, smoking, exposure to UV radiation and genetic predisposition. Antioxidants can reduce the cataract risk as found in animal models and humans and vitamin D is one of them. This epidemiological study based in...Should we move towards procedure-specific consent forms?
The consent process represents the patient’s acceptance of the information provided to them and an agreement to undergo an intervention as suggested by a health professional. Effective doctor-patient communication, ensuring the succinct delivery of the necessary points in a way...In conversation with Robert MacLaren
Professor Robert MacLaren gave the Keeler Lecture at the Royal College of Ophthalmologists Annual Meeting in May 2019 on gene therapy for retinitis pigmentosa. We caught up with him afterwards to find out more. What are the key messages of...
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...The past and the future for paediatric ophthalmology
The past 25 years have seen remarkable advances in clinical eye care for children in the UK. This has led to both improved outcomes and better patient and family experiences. There have been substantial changes to patient pathways, major advances...
Health-related quality of life after cataract surgery
This prospective study evaluates the impact of cataract surgery on subjects’ health-related quality of life (HRQoL) measured with a 15-dimension generic instrument, the 15D. The HRQoL of cataract subjects was compared with that of an age- and gender-standardised sample of...
