You searched for "genetics"

743 results found

Keratoconus: Diagnosis and Management

From the history of keratoconus to its diagnosis and management, this book covers everything. Don’t be fooled by thinking keratoconus is a simple disease like I did; this book is dense, and packed with information. The book is divided into...

Transfected RPE cells inhibit AMD in rats

Age-related macular degeneration (AMD) is a leading cause of blindness in the elderly. Wet AMD is characterised by choroidal neovascularisation, new vessels into the retina, leading to leakage and tissue damage. Many proangiogenic factors particularly vascular endothelial growth factor (VEGF)...

A review of chromosome 9p21 POAG susceptibility locus

Primary open angle glaucoma (POAG) is a genetically complex disease and the overall phenotype is influenced by multiple traits including intraocular pressure (IOP), central corneal thickness and structural features of the optic nerve head. Therefore, genes affecting any of these...

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...

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...

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...

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...