You searched for "Genetics"

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Eye surgeon behind destroyed Gaza hospital is honoured with a special recognition award

A Manchester-based eye surgeon who has made it his life’s mission to provide internationally-renowned eye care for the people of occupied Gaza, West Bank and East Jerusalem, has received a Health Champion Award from The Tropical Health & Education Trust (THET) at a special ceremony in London.

The Sclera and Systemic Disorders (3rd Edition)

An interesting historical introduction captures the reader’s attention as the journey begins into exploring the peculiarities and pathologies of ‘dura tunica of Vesalius’, a term coined by anatomists of the middle ages. This refers to what we today identify as...

Evaluation of ectopia lentis et pupillae (ELP)

The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for...

Why is there subretinal fluid at the macula?

This is a review article looking at the differential diagnosis of subretinal fluid in the macula that could be diagnosed as central serous chorioretinopathy (CSCR). The authors have categorised them into 12 groups: neovascular diseases, vitelliform lesions, inflammatory diseases, ocular...

Second primary tumours after sebaceous carcinoma

This is a study investigating the risk of developing a second primary malignancy in patients previously diagnosed with eyelid sebaceous cell carcinoma. The records of 559 patients who were diagnosed with sebaceous cell carcinoma between 2000 and 2016 were reviewed,...

Human leucocyte antigen association of patients with Stevens-Johnson syndrome in Han Chinese

This is a retrospective study of the human leucocyte antigen (HLA) polymorphism pattern of cold medicine-induced patients with Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) (n=33) and 98 control patients recruited between 2016-2017 in Taiwan. Severe ocular complications (SOC) was...

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...