You searched for "Genetics"

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Vici syndrome

Vici syndrome is a condition associated with agenesis of the corpus callosum, congenital cataract, incomplete albinism, ± immunodeficiency and cardiomyopathy. Individuals show profound hypotony and severe neuro abnormalities. This paper reports a case of Vici syndrome. A 38-month-old female had...

Biotech Healthcare unveils Optiflex XTENSE Comfort Plus at ESCRS 2025 (Copenhagen), marking a new era in Full Visual Range EDOF IOLs

Biotech Healthcare proudly introduced its newest advancement in intraocular lens technology — Optiflex XTENSE Comfort Plus, a Full Visual Range EDOF IOL, during the ESCRS 2025 meeting in Copenhagen. The product launch at Biotech’s booth drew widespread attention and appreciation...

Treatment for cause of sudden sight loss now available through the NHS in England

The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in those aged 12 and above who are affected by the condition. LHON is a rare mitochondrial genetic...

NICE approves treatment for cause of sudden sight loss

The National Institute for Health and Care Excellence (NICE) has approved a treatment for Leber Hereditary Optic Neuropathy (LHON), called Idebenone (Raxone), in those aged 12 and above who are affected by the condition. LHON is a rare mitochondrial genetic...

An update on inherited retinal disorders (part 2): Approaches to therapy for IRDs

Part 1 of this topic can be found here There are currently no proven cures for inherited retinal disease (IRD). However, multiple avenues of research are being investigated to better understand disease mechanisms and trial potential therapies that may slow...

Caring for adults with an ocular tumour

Detection If you screen for an intraocular tumour, dilate the pupil. If the patient is driving, use phenylephrine only. If the patient declines, document this in the casenotes. Don’t forget to look for sentinel vessels, which would indicate a ciliary...

Pathophysiology of diabetic macular oedema: why combination therapy may be better

The prevalence of diabetes has continued to increase over the years. It is currently estimated that there are 382 million with diabetes worldwide in 2013, and that this figure is expected to rise to 592 million by 2035 [1]. In...

Sharing best practice and landmark evidence in glaucoma care

Evolving technology, best practice and landmark evidence in glaucoma care were reviewed by an international expert faculty in session presentations and debates during the 11th Moorfields International Glaucoma Symposium 2019. The authors were meeting chairs and provide an overview of...

The gift of family

“Your kids look just like you!” is an oft-heard phrase at family gatherings. Setting aside the obvious explanation of basic genetics, similarities and recurrent character traits are well recognised within a family unit. Shared positive mutual experiences shape these attitudes...

Seeing with fresh eyes: Snails as a system for studying sight restoration

Stowers scientists have established the apple snail as a new research organism for investigating eye regeneration, which may hold the key for restoring vision due to damage and disease. Snails are slimy, simple creatures yet one species, the apple snail,...

Choosing a subspecialty

It is quite worrying how many registrars reach the final years of training without choosing a subspecialty. Sometimes this is because they love everything and cannot countenance giving any of it up, but more commonly this is due to various...

Aug/Sep 2018 Quiz

History A seven-year-old girl presented with a presumed papillomatous lesion on right inferior fornix (Figure 1). Her parents said the lesion was increasing in size for two weeks. CT scans (Figure 2) revealed a lesion occupying the right medial canthus....