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...
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...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...In conversation with Professor David Mackey at RCOphth 2019
23 May 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)
1 March 2019
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EYE - Vitreo-Retinal, EYE - General
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...
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...
Macular pigment in relatives of AMD patients
3 April 2024
| Kurt Spiteri Cornish
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EYE - Vitreo-Retinal
Blue light causes photo-oxidative retinal injury and macular pigment (MP), with lutein, zeaxanthin and mesozeaxanthin as the main components, as a filter that protects the macula from this damage. Previous studies indicated that low levels of macular pigment optical density...
Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
4 December 2023
| Soman Raman, Neda Qurashi, Qasim Mansoor
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EYE - Neuro-ophthalmology
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...
UK Paediatric Glaucoma Society Annual Meeting 2025
24 January 2025
by Hussain Aluzri, Junior Glaucoma Cinical Research Fellow, Birmingham Midland Eye Centre, UK. The UKPGS 2025 conference was another resounding success, held on 24 January 2025 at the Cavendish Conference Centre, London. The event commenced with an opening address by...
A short survey of the views of clinicians on the role of procedure-specific consent forms
1 October 2018
| Hamza Zafar, SZ Tan, SJ Charles, Niall Patton, A Jalil, G Turner, Rita McLauchlan, D Park, FD Scala
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EYE - General
Informed consent is an ethical and legal right of every patient [1]. It is essential that patients receive clear, concise and accurate information regarding the risks, benefits and alternatives to a potential intervention. In addition to this, the patient must...
