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Renewed momentum in ocular gene and cell therapy, broadening application to chronic disease

Gene and cell therapies offer the prospect of ground-breaking new avenues for the treatment of diseases, reflected in a renewed explosion of interest and investment in retinal gene therapy. Rod McNeil reports recent clinical trial readouts across a diverse range...

An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease

Part 2 of this topic can be found here Inherited Retinal Disease (IRD) is the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales and the second most common in childhood [1]....

Breakthroughs in the genetics of angle-closure glaucoma

Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...

The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD

Age-related macular degeneration (AMD) is a neurodegenerative complex disease of the eye and a major cause of blindness and visual impairment among the elderly worldwide. The early stages of the disease are characterised by asymptomatic pigmentary abnormalities and accumulation of...

A revolution in modern genetic testing for the clinical management of ocular disease

Recent years have seen a huge increase in our understanding of the genetic factors underlying a wide variety of eye diseases. This has included common conditions such as glaucoma and age-related macular degeneration, as well as those conditions which have...

Corneal dystrophies simplified

Based on biomicroscopic and histopathologic features, corneal dystrophies can be broadly classified into epithelial, Bowman’s layer / anterior stromal, stromal, and endothelial dystrophies. Corneal dystrophies are a group of inherited, bilateral, gradually progressing, non- inflammatory conditions caused by accumulation of...

An update on inherited retinal disorders (part 2): Approaches to therapy for IRDs

Part 1 of this topic can be found here There are currently no proven cures for inherited retinal disease (IRD). However, multiple avenues of research are being investigated to better understand disease mechanisms and trial potential therapies that may slow...

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...

A brief history of colour vision

Andrew Want takes a look at how colour vision has evolved in humans and animals and how it differs across species. Colour vision is something that we often take for granted, but it has become so intrinsic to the way...

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...

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...

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 /...