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Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide

X-linked retinoschisis (XLRS) is an early onset hereditary retinal dystrophy. It is caused by mutations of the RS1 gene. Common manifestations of XLRS are schitic lesions at the macula, as well as infero-temporal schisis. Carbonic anhydrase inhibitors have previously been...

HtrA1 enhances cell senescence

A genetic basis for age-related macular degeneration (AMD) has been greatly advanced in recent years. The role of identified pathways such as complement factor H in AMD has been widely investigated. However, the effect of other gene variants identified by...

Stargardt disease in a Turkish cohort

The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...

PAX6 methylation and myopia

The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples...

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...

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...

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 /...

Large-scale study uncovers demographic and sex factors behind genetic cause of age-related visual loss

A new study has identified a major genetic contributor to Fuchs’ Endothelial Corneal Dystrophy (FECD), a common cause of vision loss, also highlighting the significant roles of sex and ancestry. FECD is a common, inherited eye condition that primarily affects...