Research and medical roundup

Post date: 
Thursday, 3 May 2018
Image of a scientist experimenting in a lab

New genetic cause of corneal dystrophy discovered

Corneal dystrophies can lead to severe sight loss or blindness. Posterior polymorphous corneal dystrophy (PPCD) is a rare form of corneal dystrophy which affects the endothelium, a layer of cells that line the back of the cornea. Until now, the genetic faults of PPCD have been mostly unknown.
 
The genetic cause of PPCD has been discovered by a team of researchers through new techniques in the sequencing of the human genome. They located a new PPCD gene and changes in the DNA sequence that affect a gene called GRHL2. This gene is not expected to be expressed in the corneal endothelium, but the researchers have shown that DNA changes cause the gene to be expressed inappropriately in the corneal endothelial cells.
 
Professor Alison Hardcastle, member of the research team said: “This study is not only important for understanding what is required for a healthy cornea and how it is faulty in disease, but also represents an important advance in human genetics, enhancing our understanding of the ‘non-coding’ regions of the human genome that dictate where, and when, a gene should be switched on or off.”
 
Full details of this research can be found in The American Journal of Human Genetics.
 

Diabetes doubles chance of developing cataract

People with diabetes are twice as likely to develop cataract when compared to people who do not have the condition, according to a new study.
 
Researchers analysed the medical records of more than 56,000 UK-based patients with diabetes aged 40 or over, and found that cataract was diagnosed at an overall rate of 20.4 per 1,000 people. The rate in the general population is 10.8 per 1,000.
 
Patients with diabetes aged between 45 and 49 were 4.6 times more likely to develop cataracts, and those with diabetes aged between 50 and 54 were 5.7 times more at risk than their healthy counterparts.
 
A co-author of the study, Rupert Bourne, Professor of Ophthalmology at Anglia Ruskin University’s Vision and Eye Research Unit, said: "This is only the second such report on cataract incidence in the UK's diabetic patients since the 1980s and it further emphasises the importance of the NHS Diabetic Eye Screening programme in early identification and treatment of diabetic eye disease to prevent sight loss.”
 

Warning on detachment of cannulas during ophthalmic surgery

The NHS Improvement national patient safety team have informed the Royal College of Ophthalmologists (RCOphth) of the continued trend of detachment of cannulas during ophthalmic surgery, which can result in damage to the globe of the eye and visual impairment.

There are a number of steps that surgical staff can take to prevent detachment, including using luer lock syringes, having both the surgeon and scrub nurse check that the cannula and syringe are securely connected before use, priming the cannula/syringe to remove any air space and angling the cannula away from the posterior segment of the patient’s eye.

Full details on preventative safety steps are on the RCOphth’s website.

 

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