You searched for "genetics"
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...
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...Genetic therapy gives infants life-changing improvements in sight
Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through Moorfields Eye Hospital and UCL Institute of Ophthalmology, with the support of MeiraGTx. The children were born with a severe impairment to...New study uncovers key mechanism behind a common genetic cause of age-related visual loss
A groundbreaking study has revealed important insights into the mechanisms behind Fuchs Endothelial Corneal Dystrophy (FECD), a common cause of age-related visual loss, providing hope for future therapeutic developments, and finding implications for other neurological diseases. FECD is a common,...How to pass FRCOphth Part 1 on the first attempt
Studying for this exam makes one wonder how there is so much to know about such a small organ. The FRCOphth Part 1 examination is notorious for its low pass rate, with only 20–40% of candidates succeeding at each sitting....
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....
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...
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...
