You searched for "genetic"

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CHARGE syndrome features

CHARGE syndrome (CS) includes coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies and ear anomalies. The authors developed an original self-administered questionnaire (VISIOcharge) for patients with CS and used it to evaluate...

Can OCT predict Alzheimer’s disease?

Simerdip Kaur takes a look at the latest ophthalmology-related news stories and asks which are based on facts and which are ‘fake news’. Headline: Can OCT predict Alzheimer’s disease? In 1986 Hinton et al. demonstrated evidence of optic nerve degeneration...

Unconscious bias

Swansea University invited me to an Away Day. There was a whole day of lectures planned at a hotel conference suite just outside Swansea but due to clinic commitments I only caught the afternoon session; a ‘workshop’, on how to...

Neurofibromatosis with multiple bilateral choroidal nevi and literature review

The aim is to present a case of neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, who presented with bilateral multiple choroidal nodular nevi following chemotherapy and mastectomy for breast cancer. Neurofibromatosis type-1 presents as a wide range of...

Blame the lens – not its position – in refractive surprise

Aetiology of postoperative refractive surprise Weber coined the term “wrong eye, wrong intraocular lens, wrong patient” in 2008 as an aide memoir of major factors believed to underlie refractive surprise – defined as a significant unintended difference between dioptric refraction...

SightCare 'The Future is Now' Conference a Success

SightCare, the business support community for independent practices, was held on 29 and 30 January 2023 after its postponement from its original September date which unfortunately fell on the day of the Queen’s funeral.

CHEC announces national online CPD event covering critical eye condition that has seen 400% increase in secondary care referrals

CHEC announces national online CPD event covering critical eye condition that has seen 400% increase in secondary care referrals. The seminar is to be hosted by CHEC Clinical Director Mahmoud Rabie and follows the UK rollout of CHEC’s ground-breaking YAG Quantel Capsulo Laser System which significantly improves accuracy in eye treatments.

Principles of management

Whatever section of pathology is to blame and wherever it strikes, the aim of treatment is always the same. Find the cause if you can. Establish the effects of the cause. Halt the pathological process if you can. Reverse its...

The role of inflammation in the pathophysiology of DMO

Diabetic macular oedema (DMO) is a major cause of visual loss in diabetes, with a complex multifactorial pathogenesis. In the UK alone it is estimated that there are nearly 2.5 million diabetic patients aged over 12 years. Approximately 65,000 of...

Simulating the visual impairment symptoms of age-related macular degeneration in virtual reality

A new virtual reality application visually simulates age-related macular degeneration and demonstrates its progression over time including some Charles Bonnet syndrome hallucinations. Introduction Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries with the prevalence of...

New funding will support development of wearable diagnostics for neuromuscular diseases

A researcher from the University of Glasgow has received an EPSRC Open Fellowship to develop new wearable technology capable of measuring the progress of neuromuscular diseases.

Report on ‘2024: Artificial Intelligence and the Eye’

As the application of artificial intelligence (AI) is brought to the foray of clinical medicine, you can be forgiven for thinking that it is a relatively recent technology. However, researchers and computer scientists have been working on it for many...