You searched for "Genetics"

789 results found

Morning glory syndrome associated with PHPV

This is a retrospective review of the medical records of 85 eyes / 74 patients diagnosed as morning glory syndrome (MGS) in the clinic between November 2009 and November 2012. Twenty two eyes of 19 patients diagnosed as having MGS...

Management and outcomes of congenital fibrovascular pupillary membranes (CFPM)

Congenital fibrovascular pupillary membranes (CFPM) is defined as a white fibrous membrane across the pupil which may be an ectopic iris tissue arising from the aberrant migration of neural crest cells or a variant of persistent fetal vasculature. The authors...

Update: Non-infectious retinal vasculitis

This review article summarises the update on non-infectious retinal vasculitis (RV). It is primarily classified based on the type of retinal vessels involved and further sub-classified as occlusive or nonocclusive. Clinically it can occur as an isolated ocular entity or...

Findings in an orthoptic-led clinic for children with epilepsy

This retrospective study aimed to determine the prevalence of ophthalmic abnormalities in children referred to the children’s epilepsy surgery service (CESS) in a single-UK centre and determine associations with epilepsy type and aetiology. This was a review of the CESS...

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...

Treatment for cause of sudden sight loss now available through the NHS in England

The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in those aged 12 and above who are affected by the condition. LHON is a rare mitochondrial genetic...

NICE approves treatment for cause of sudden sight loss

The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in those aged 12 and above who are affected by the condition. LHON is a rare mitochondrial genetic...

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...