You searched for "genetics"
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...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...
Visual prognosis in Irish Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
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...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...
Oxford Rheumatology Library: Sjögren’s Syndrome
This is a handy little book which covers everything you need to do know (and then some) about Sjögren’s syndrome. It is split into nine sections: Epidemiology, genetics and disease burden Diagnosis and clinical assessment Oral features Ocular features Fatigue,...The paediatric cataract: an overview of the embryology and pathophysiology
In the first of the two articles (see Part 2 here) on paediatric cataracts, Samuel Aryee reviews the aetiology of this condition. Cataracts arise from opacification of the natural transparent lens, which can cause partial or total blindness. Although the...Retinoblastoma management update (part 2): treatment, screening and surveillance, long-term follow-up and new developments
Retinoblastoma treatment requires significant multidisciplinary input, but early detection through raising awareness remains key to improving outcomes. In the second article of a two-part series, Manoj Parulekar discusses retinoblastoma management, screening and research. This article has been published in two...
