You searched for "genetics"
A short survey of the views of clinicians on the role of procedure-specific consent forms
1 October 2018
| Hamza Zafar, SZ Tan, SJ Charles, Niall Patton, A Jalil, G Turner, Rita McLauchlan, D Park, FD Scala
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EYE - General
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...
Genetic therapy gives infants life-changing improvements in sight
24 February 2025
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genetics, gene therapy, Moorfields, paediatrics, research, new, AIPL1, Leber Congenital Amaurosis
Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through Moorfields Eye Hospital and UCL Institute of Ophthalmology, with the support of MeiraGTx. The children were born with a severe impairment to...
New study uncovers key mechanism behind a common genetic cause of age-related visual loss
19 September 2024
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Cornea / External Eye Disease
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endothelial cells, age, vision loss, research, academic, new, genetics, genome, Fuchs Endothelial Corneal Dystrophy, FECD
A groundbreaking study has revealed important insights into the mechanisms behind Fuchs Endothelial Corneal Dystrophy (FECD), a common cause of age-related visual loss, providing hope for future therapeutic developments, and finding implications for other neurological diseases. FECD is a common,...
Age-related macular degeneration
1 December 2015
| Nana Theodorou
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EYE - Vitreo-Retinal
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
1 April 2014
| Nana Theodorou
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EYE - Vitreo-Retinal
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....
Genetic profiles of primary strabismus
The authors explore the pedigree analysis of familial cases of primary concomitant strabismus (PCS) to unravel the genetic determinants of this strabismus. Of 2301 cases of PCS, 39 (1.7%) had familial clustering. This study recruited 18 families with esotropia and...
Understanding retinal ciliopathy through Bardet-Biedl syndrome
5 August 2022
| Zhihang Cheng
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EYE - Vitreo-Retinal
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
5 August 2022
| Zhihang Cheng
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EYE - Vitreo-Retinal
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...
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...
Visual prognosis in Irish Leber’s hereditary optic neuropathy
1 December 2022
| Claire Howard
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EYE - Neuro-ophthalmology
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Leber’s hereditary optic neuropathy, idebenone, inherited optic neuropathy, mtDNA, ophthalmic genetics, optic atrophy
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...The past and the future for paediatric ophthalmology
1 June 2018
| Jane Ashworth, Chris Lloyd (Prof)
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EYE - Paediatrics
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...
