You searched for "genetics"

340 results found

Molecular genetics of achromatopsia

Achromatopsia is a rare autosomal recessive disorder of the cone photoreceptors. Typical characteristics of affected patients include the inability to distinguish colours, impaired visual acuity, photophobia and nystagmus. The condition is said to be more frequent in the Pingelapese population...

Wills Eye Handbook of Ocular Genetics

Wills Eye Handbook of Ocular Genetics is a concise and comprehensive guide to the diagnosis and management of ophthalmic genetic conditions. Ocular genetics is a rapidly-evolving field and an updated textbook is vital to communicate the recent advances made in...

Breakthroughs in the genetics of angle-closure glaucoma

Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...

Retinoblastoma management update (part 1): clinical features, diagnosis and genetics

The first of a two part series, this article will discuss the clinical features, diagnosis and genetic aspects of retinoblastoma. Manoj Parulekar is based at Birmingham Children’s Hospital, one of the two designated national retinoblastoma and paediatric ocular oncology treatment...

The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD

Age-related macular degeneration (AMD) is a neurodegenerative complex disease of the eye and a major cause of blindness and visual impairment among the elderly worldwide. The early stages of the disease are characterised by asymptomatic pigmentary abnormalities and accumulation of...

UK EGG (UK Eye Genetics) Annual Meeting 2021

·          Full-price registration will end 13th September 2021. ·         Abstract submissions will close on 31st July 2021.

Retina UK Annual Conference and AGM 2021

@10:00 – 14:45 BST

Hereditary profile of retinal detachment

This review sought to clarify some of the heritable elements of rhegmatogenous retinal detachment (RRD). The familial element of RRD is well established, with the sibling recurrence risk ratio being 2.1 (Mitry and colleagues), and the parent-offspring recurrence risk ratio...

A revolution in modern genetic testing for the clinical management of ocular disease

Recent years have seen a huge increase in our understanding of the genetic factors underlying a wide variety of eye diseases. This has included common conditions such as glaucoma and age-related macular degeneration, as well as those conditions which have...

Retina UK Professionals' Conference 2021

@10:00 - 13:45 BST

Congenital aniridia with or without retinal detachment

The authors present the clinical and molecular genetic evaluations performed on a large Iranian pedigree with 26 aniridia affected patients in four generations and some with retinal detachment. Members of the family affected with aniridia were invited to participate after...

In conversation with Professor Usha Chakravarthy (2018)

Professor Chakravarthy popped by the Eye News stand at the 2018 Royal College of Ophthalmologists Annual Congress after her excellent Bowman Lecture. She gave us a summary of her presentation, which looked at how our understanding of AMD has changed...