You searched for "genetic"
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...
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...
Ocular characteristics in Marfan syndrome
Marfan syndrome (MFS) is a genetic disorder with clinical manifestations associated with cardiovascular, ocular and skeletal organ systems. Typical signs are descending aortic root aneurysms, ectopia lentis, tall stature and scoliosis. This observational study looked at the ocular characteristics, visual...
