You searched for "genetic"

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Progression of macular atrophy in Stargardt disease

The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...

The past and the future for paediatric ophthalmology

The past 25 years have seen remarkable advances in clinical eye care for children in the UK. This has led to both improved outcomes and better patient and family experiences. There have been substantial changes to patient pathways, major advances...

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...

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...

Albinism: Celebrating international awareness, advocacy and clinical insights

Albinism is a group of inherited genetic disorders which occurs worldwide, regardless of ethnicity or gender, and that affects melanin production in the hair, skin and eyes. Prevalence varies globally, ranging from approximately 1 in 20,000 individuals in Europe and...

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...

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.

CRATER 2025

The Conference on Recent Advances in Translational Eye Research 2025

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...

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’.