You searched for "genetic"
Boosting key protein in eye cells could prevent age-related vision loss, international team finds
Increasing the levels of a key protein in the cells at the back of the eye could help protect against the leading cause of vision loss among older adults, finds a new discovery made by researchers from the UK, US, Germany and Australia.Blind Faith: In Conversation with Mariya Moosajee
In light of the BBC releasing Blind Faith: Do genetic eye disease ‘treatments' work? earlier this year, a documentary which follows BBC journalist Ramadan Younes as he investigates practitioners who falsely claim to have ‘treatments’ for genetic eye disease, Eye...
Quality of life after oculoplastic surgery
This is a literature review of published quality of life surveys in patients who have undergone a variety of oculoplastic procedures. The authors emphasise the importance of patient reported outcomes, noting that clinician and patient perceptions may differ, and that...
How accurate is the supplement content in both generic and branded ophthalmology supplements?
This prospective cross-section study compared the concentrations of Vitamin C, Vitamin E, Zinc, and Copper in five dietary supplements including both national and regional brands used for macular degeneration in the United States. They performed a comparative analysis using gas...A paperless future – get involved!
Jeremy Hunt’s statement earlier in 2014, about a paperless NHS by 2018, has added momentum to the transition away from paper records. The Tech Review this issue discusses what that will involve and how and why you may want to...
Assessing and treating achromatopsia
This literature review considers clinical characteristics (pendular nystagmus, poor visual acuity, lack of colour vision and marked photophobia), genetics (autosomal recessive disease, with CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 gene mutations), diagnostic options (OCT and fundus auto fluorescence), and...In conversation with Denize Atan (UK-EGG)
We spoke to Denize Atan, co-president of the UK Eye Genetics Group, about their upcoming meeting in June, and her recent session entitled ‘Neuro-ophthalmology Nightmares’.
Morning glory syndrome associated with PHPV
This is a retrospective review of the medical records of 85 eyes / 74 patients diagnosed as morning glory syndrome (MGS) in the clinic between November 2009 and November 2012. Twenty two eyes of 19 patients diagnosed as having MGS...
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...
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...
