You searched for "genetics"
How to pass the FRCOphth part 2 written
The part 2 written exam comprises of 180 multiple choice questions – spread over two 120-minute sessions. According to the most recent college exam reports, the pass rate ranged from 45 to 70% in 2019/2020. Most trainees seem to sit...
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...
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...
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...
