You searched for "gene"

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Familial Mediterranean Fever and keratoconus

This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...

Embryology in clinical practice

The fascinating world of embryology is both beautiful and practical. It is a home video of our evolutionary history through the ages from the single cell through to the life aquatic, the development of gut, limbs and brain, and most...

Blindness from some inherited eye diseases may be caused by gut bacteria

Sight loss in certain inherited eye diseases may be caused by gut bacteria, and is potentially treatable by antimicrobials, finds a new study in mice co-led by a UCL and Moorfields researcher.

Transcriptomic analysis of ocular tissues

Transcriptomics is defined as the analysis of the complete set of RNA transcripts present in a cell under different circumstances, quiescent versus challenge, by microarray analysis. Comparison of transcriptomes identifies genes that are differentially expressed in different cell populations under...

Retinoblastoma management update (part 1): clinical features, diagnosis and genetics

The first of a two part series, this article will discuss the clinical features, diagnosis and genetic aspects of retinoblastoma. Manoj Parulekar is based at Birmingham Children’s Hospital, one of the two designated national retinoblastoma and paediatric ocular oncology treatment...

Myopia-protective against diabetic retinopathy

This meta-analysis evaluates the current evidence of the relationship between myopia and diabetic retinopathy (DR) risk. A systematic search was performed up to April 2015. Three models were used to assess the association between myopia and risk of DR: axial...

Lamellar patch grafts utilising cornea remnants from DMEK/PKP

The authors retrospectively reviewed 23 lamellar patch grafts performed over a six-year period for tectonic indications in corneal thinning and perforations. The anterior stroma of corneal endothelium peeled for descemet membrane endothelial keratoplasty (DMEK) were used to prepare circular lamellar...

Genetic profiling for personalised healthcare solutions in AMD – an update

Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...

How to win presentation medals

Having been to many tens of thousands of ophthalmology registrar presentation competitions and seen the types of presentations that consistently impress the judges, as well as the ones that fail to make the grade, I feel it is my humble...

In conversation with Robert McLaren at RCOphth 2019

In this video Professor Robert MacLaren talks to Eye News about the Keeler Lecture he gave on Gene Therapy for Retinitis Pigmentosa. Click the image below to see his answers to our questions.

Leber’s hereditary optic neuropathy: from lab to clinic

Leber’s hereditary optic neuropathy (LHON) was the first clinically described mitochondrial disorder (1871). This article reviews the pathophysiology and clinical features of LHON with a focus on translational research. G11778A is currently the most common mutation worldwide and is associated...