You searched for "Genetics"
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...
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...
HtrA1 enhances cell senescence
A genetic basis for age-related macular degeneration (AMD) has been greatly advanced in recent years. The role of identified pathways such as complement factor H in AMD has been widely investigated. However, the effect of other gene variants identified by...
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...
