You searched for "Genetics"
NEOS (North Of England Ophthalmological Society) Spring Meeting 2024
by Matthew Hartley, Trainee, Northern Deanery, UK. In NEOS’ 110th year, the spring meeting was held in Doncaster and centred around ocular oncology and vitreoretinal surgery. The meeting hosts, Umi Harley and Steve Winder from Royal Hallamshire Hospital, arranged a...
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
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...
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...A short survey of the views of clinicians on the role of procedure-specific consent forms
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...
Understanding retinal ciliopathy through Bardet-Biedl syndrome
This is a review article looking at up-to-date understanding and ongoing research in retinal ciliopathies. Syndromic ciliopathies consist of a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis. These disorders have multiorgan involvement in addition to retinal degeneration...
A to Z of X-linked retinopathies
This review article provides an excellent summary of X-linked retinopathies and the corresponding genotype and clinical features. The authors provide a comprehensive overview of each condition in terms of its pathogenesis, clinical features, imaging findings, electrophysiology changes and any current...
Genetic profiles of primary strabismus
The authors explore the pedigree analysis of familial cases of primary concomitant strabismus (PCS) to unravel the genetic determinants of this strabismus. Of 2301 cases of PCS, 39 (1.7%) had familial clustering. This study recruited 18 families with esotropia and...
Age-related macular degeneration
This review article offers an up to date review of the genetic and environmental risk factors associated with aetiology surrounding age-related macular degeneration (AMD). The article briefly describes the typical clinical presentation relating to early and late stages of the...
Retinopathy of prematurity
This review article describes the pathophysiology of retinopathy of prematurity (ROP). The authors start by introducing the condition and its incidence. There is extensive information on the pathophysiology mechanisms involved in the condition to include normal and pathological retinal development....
Visual prognosis in Irish Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
