You searched for "dystrophy"

307 results found

Interspecialty referrals

Referrals between the many and varied branches of ophthalmology sometimes underline how sub-specialised we have all become nowadays. The old era when everyone was an ophthalmic jack of all trades is gone, for better or for worse, and instead of...

What's trending Aug/Sep 2024

A round-up of the eye-related hot topics that have been trending on social media over the last few weeks. #GeneralElection #RightToVote It goes without saying that the general election has been dominating the headlines and with it, the challenges many...

Effect of minor trauma in eyes with previously undiagnosed angioid streaks

Angioid streaks (AS) may be associated with pseudoxanthoma elasticum (PXE), Paget’s disease, haemoglobulinopathies, Ehlers-Danlos Syndrome or abetalipoproteinaemia. Histopathology showed retinal pigment epithelium (RPE) and choriocapillaris loss, elastic fibre degeneration, calcium deposition, active choroidal neovascular membrane (CNVM) and vascular endothelial growth...

Nanosecond laser cataract surgery

The authors review the evidence for nanosecond laser cataract surgery: is this the future? Cataract is a leading cause of visual impairment worldwide, and cataract surgery is one of the most successful and cost-effective healthcare interventions, with a great impact...

The Leicester Grading System for Foveal Hypoplasia

The University of Leicester Ulverscroft Eye Unit have published the first medical grading system named after the city of Leicester. Infantile nystagmus is characterised by constant and involuntary eye movements and affects 24 per 10,000 people [1]. Onset is usually...

DMEK vs. UT-DSAEK: has the debate been finally concluded?

In recent years the surgical treatment of corneal endothelial dystrophy has progressed tremendously. Descemet’s membrane endothelial keratoplasty (DMEK) is the newest iteration in the line of rapid surgical advances that has taken place. However, the previously accepted gold standard prior...

Rare eye diseases: progress continues with authorised orphan medicines and breakthrough technologies

An update on the development of orphan medicines, recent regulatory treatment approvals for rare eye conditions and advances in retinal prosthetic technologies for blinding diseases. The prevalence of a rare disease is based usually on a range of estimates and...

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...

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 /...

Multimodal Retinal Imaging

Understanding of rapidly advancing retinal imaging techniques is important as they have changed the management of retinal conditions considerably. Interpretation of these tests is a vital skill in the armamentarium of every practising ophthalmologist. The book is directed at general...

Wills Eye Handbook of Ocular Genetics

Wills Eye Handbook of Ocular Genetics is a concise and comprehensive guide to the diagnosis and management of ophthalmic genetic conditions. Ocular genetics is a rapidly-evolving field and an updated textbook is vital to communicate the recent advances made in...

Reclassifying genetic variants in inherited retinal diseases

The authors present a retrospective study of 142 gene sequence variants from 28 patients with vitreoretinal dystrophies which were re-interpreted based on American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines. Overall, there was...