You searched for "genetic"
FEVR characteristics
The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12...The Royal College of Surgeons of Edinburgh: Foundations in Surgical Leadership June 26
The Royal College of Surgeons of Edinburgh Foundations in Surgical LeadershipThe Royal College of Surgeons of Edinburgh: Foundations in Surgical Leadership April 26
Royal College of Surgeons Edinburgh Foundations in Surgical Leadership
Nystagmus and associated diagnosis
Patients with nystagmus attending a Low Vision clinic in Sweden were included in this study. Medical records were reviewed to exclude those with general diagnoses that could explain the nystagmus. The remaining group of patients underwent subjective refraction, retinoscopy, ocular...In conversation with Professor David Mackey at RCOphth 2019
In this video Professor David Mackey talks to Eye News about the Edridge Green Lecture he gave on What colour are your eyes? The genetics of eye colour and colour vision Click the image below to see his answers to...In conversation with Professor Usha Chakravarthy (2018)
Professor Chakravarthy popped by the Eye News stand at the 2018 Royal College of Ophthalmologists Annual Congress after her excellent Bowman Lecture. She gave us a summary of her presentation, which looked at how our understanding of AMD has changed...Usher syndrome: an overview
Usher syndrome is the most common hereditary condition that affects both vision and hearing. It is an autosomal recessive condition characterised by retinitis pigmentosa (RP) and bilateral sensorineural hearing loss [1,2]. Usher syndrome is the cause of approximately 10% of...Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...
Features of idiopathic versus non-idiopathic ocular motor apraxia
The aim of this study was to describe the characteristics and outcomes of ocular motor apraxia (OMA) in a paediatric neuro-ophthalmology clinic over 10 years. This was a retrospective case review and included 37 patients of which 46% were idiopathic...
