You searched for "genetics"

534 results found

Childhood glaucoma

When a child is given a diagnosis of glaucoma, the impact upon that child and their family is enormous; equivalent to the diagnosis of a cancer [14]. This article outlines the knowledge, techniques and approaches that offer solutions to the...

New cataract, cornea and ocular surface disease innovations from Kestrel Ophthalmics

Kestrel Ophthalmics, (a Cutting Edge company) is pleased to introduce an integrated medical and surgical approach to treat a range of conditions.

Fight for Sight continues to promote eye research

Eye research charity Fight for Sight has announced its latest project funding and its plans for continuing its efforts to advance eye research in the current global health crisis and beyond.

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...

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...

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...