You searched for "Genetics"

534 results found

Ocular findings in children with myasthenia

This is a retrospective audit of paediatric myasthenic patients presenting to Great Ormond Street (GOSH) between January 2016 and January 2020. During this period there were 49 children, including 27 with juvenile myasthenia (JMG) and the rest as congenital myasthenia...

Using a tumour registry to investigate optic nerve gliomas

This study is a retrospective comparative analysis. Patients with optic nerve glioma and pilocytic astrocytoma were identified through the Surveillance, Epidemiology and End Results (SEER) cancer registry covering a 42-year period using standardised codes. The following data was extracted: basic...

ABCA1 mediates lipid efflux in the retina

Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. There are two forms of AMD, dry and wet, the latter so named because of the presence of choroidal neovascularisation. Both forms lead to retinal pigment...

A possible biomarker for diabetic retinopathy

Diabetic retinopathy (DR) is the most common form of diabetic eye disease, characterised by exudates, microaneurysms and haemorrhage. Early diagnosis is crucial for preventing visual loss. The risk of developing diabetic retinopathy is known to increase with age as well...

Case report of Leber hereditary optic neuropathy (LHON)

This case report presents a 74-year-old male patient who developed LHON, with a previous diagnosis of bilateral macular holes. LHON occurs predominantly in healthy young men and onset in older age ranges increases the likelihood that the patient will have...

Update on primary angle closure glaucoma

This review article considers primary angle-closure glaucoma which is responsible for half of glaucoma-related blindness worldwide. Angle closure is characterised by appositional contact between the iris and trabecular meshwork. It tends to develop in eyes with shallow anterior chambers, anteriorly...

A case report of visual loss as a consequence of coeliac disease

The authors present a case of permanent visual loss secondary to occipital lobe calcification in coeliac disease, the first reported such case. The 58-year-old man had been diagnosed with coeliac disease 20 years prior to his visual investigations and had...

Quality of life after oculoplastic surgery

This is a literature review of published quality of life surveys in patients who have undergone a variety of oculoplastic procedures. The authors emphasise the importance of patient reported outcomes, noting that clinician and patient perceptions may differ, and that...

In conversation with John Forrester

What made you choose ophthalmology as a career and how did your interest in academia develop? During Medical School at Glasgow University, I was getting progressively disillusioned with the career options while my colleagues and friends all seemed to quickly...

An interview with Professor John Forrester

What made you choose ophthalmology as a career and how did your interest in academia develop? During Medical School at Glasgow University, I was getting progressively disillusioned with the career options while my colleagues and friends all seemed to quickly...

Discussing treatment modalities for bilateral wet AMD

A 65-year-old lady with bilateral wet AMD and vision of 6/24 comes with an internet search about current therapies. How do you explain the various treatment modalities available? There are two NICE approved treatments for wet age-related macular degeneration (AMD)....

The work of BIPOSA

The British and Irish Paediatric Ophthalmology and Strabismus Association (BIPOSA) was set up in 2008 to merge two streams of ophthalmology, namely the practice of paediatric ophthalmology and the practice of strabismus (to include refracting in children, and strabismus in...