You searched for "genetics"

743 results found

Glaucoma UK introduces its first ever Pitts Crick Fellow

Glaucoma UK is delighted to announce the recipient of their first ever Pitts Crick Fellowship. This Fellowship was an important part of the charity’s 50th anniversary celebration throughout 2024. Its aim was to honour the legacy of the founder Ronald...

Conference Report: ARVO 2025 Annual Meeting

The Association for Research in Vision and Ophthalmology (ARVO) 2025 Annual Meeting was held at the Salt Palace Convention Centre in Salt Lake City, US. This prestigious event brought together experts in vision and ophthalmology from around the world for...

Medical Medway Fayre 2024

by Ines Lahlou Chettab, Ophthalmologist (Algeria), MCh Ophthalmology Student, Canterbury Christ Church University, UK. Over the past six years, the Institute of Medical Sciences of Canterbury Christ Church University has hosted the Medway Medical Fayre. This event was initiated and...

Oxford Rheumatology Library: Sjögren’s Syndrome

This is a handy little book which covers everything you need to do know (and then some) about Sjögren’s syndrome. It is split into nine sections: Epidemiology, genetics and disease burden Diagnosis and clinical assessment Oral features Ocular features Fatigue,...

Ocular Pathology, 9th Edition

For anyone delving into the complex and fascinating world of ophthalmic diseases, Ocular Pathology, 9th Edition by Myron Yanoff and Joseph W Sassani is an essential companion. This book continues its 50-years legacy as a reliable resource for understanding pathophysiology,...

Association between serum 25-hydroxyvitamin D levels and age-related cataracts

Cataractogenesis occurs as a result of ageing, smoking, exposure to UV radiation and genetic predisposition. Antioxidants can reduce the cataract risk as found in animal models and humans and vitamin D is one of them. This epidemiological study based in...

Visual prognosis in Irish Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...

Effects of ML4 on the eye

Mucolipidosis type IV (ML4) is an autosomal recessive lysosomal storage disease and is caused by variants of the MC0LN1 gene. It often presents in young individuals with eye and ocular adnexa issues. The authors present a case report and literature...

Heidelberg Engineering Celebrates Eye2Gene™ AI Breakthrough in Precision Ophthalmology

Heidelberg Engineering proudly announces a significant advance in the use of artificial intelligence for ophthalmic diagnostics, with the publication of the Eye2Gene™ study in Nature Machine Intelligence. Titled “Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene”, the...

Canadian centre experience with ocular cystinosis cases

Ocular cystinosis (OC) is an uncommon recessive genetic disease occurring in about one case per 100–200,000 live births. Patients have accumulation of cystine crystals within tissues. Ocular symptoms include photophobia, blepharospasm, foreign body sensation, retinopathy and visual impairment. Crystals have...

In conversation with Robert MacLaren

Professor Robert MacLaren gave the Keeler Lecture at the Royal College of Ophthalmologists Annual Meeting in May 2019 on gene therapy for retinitis pigmentosa. We caught up with him afterwards to find out more. What are the key messages of...

RCSEd Foundations in Surgical Leadership April 26

Royal College of Surgeons Edinburgh Foundations in Surgical Leadership