You searched for "Genetics"

518 results found

Are we short-sighted about myopia?

Worldwide prevalence of myopia has increased rapidly in recent years and has now reached epidemic levels, particularly in South-East Asia where prevalence is around 80% [1-4]. Myopia prevalence is also increasing in the United States and Europe where it is...

Reliability of kinetic perimetry in children and young adults

This study reports on normative visual field area, feasibility and repeatability of testing for a large sample size of healthy children and young adults, using Octopus semi-automated kinetic perimetry. Sample included 221 healthy volunteers aged 5-22 years. The study was...

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...

Caring for adults with an ocular tumour

Detection If you screen for an intraocular tumour, dilate the pupil. If the patient is driving, use phenylephrine only. If the patient declines, document this in the casenotes. Don’t forget to look for sentinel vessels, which would indicate a ciliary...

Pathophysiology of diabetic macular oedema: why combination therapy may be better

The prevalence of diabetes has continued to increase over the years. It is currently estimated that there are 382 million with diabetes worldwide in 2013, and that this figure is expected to rise to 592 million by 2035 [1]. In...

Sharing best practice and landmark evidence in glaucoma care

Evolving technology, best practice and landmark evidence in glaucoma care were reviewed by an international expert faculty in session presentations and debates during the 11th Moorfields International Glaucoma Symposium 2019. The authors were meeting chairs and provide an overview of...

Visual consequences of congenital hypothyroidism

This study evaluated the frequencies of ophthalmic abnormalities in Turkish children with a history of congenital hypothyroidism in a retrospective study of 121 children. Median age was nine months (one to 216) at initial ophthalmic examination. Forty children were ex-premature...

Vici syndrome

Vici syndrome is a condition associated with agenesis of the corpus callosum, congenital cataract, incomplete albinism, ± immunodeficiency and cardiomyopathy. Individuals show profound hypotony and severe neuro abnormalities. This paper reports a case of Vici syndrome. A 38-month-old female had...

The gift of family

“Your kids look just like you!” is an oft-heard phrase at family gatherings. Setting aside the obvious explanation of basic genetics, similarities and recurrent character traits are well recognised within a family unit. Shared positive mutual experiences shape these attitudes...

Aug/Sep 2018 Quiz

History A seven-year-old girl presented with a presumed papillomatous lesion on right inferior fornix (Figure 1). Her parents said the lesion was increasing in size for two weeks. CT scans (Figure 2) revealed a lesion occupying the right medial canthus....

My Top Five: Duke Elder Undergraduate Ophthalmology Prize Exam Tips

The prestigious Duke Elder Undergraduate Ophthalmology exam in the UK is aimed at medical students who have completed their ophthalmology undergraduate teaching but is open to all medical undergraduates provided they have not graduated at the time of the examination....

Choosing a subspecialty

It is quite worrying how many registrars reach the final years of training without choosing a subspecialty. Sometimes this is because they love everything and cannot countenance giving any of it up, but more commonly this is due to various...