You searched for "Genetics"
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...
Genetics counsellors in inherited retinal disease clinics
This is a questionnaire-based study from the USA of genetics counsellors with a primary role working within ophthalmology services. The purpose was to investigate the roles currently undertaken, to assess workload, and to acquire data on the experience of genetics...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...
Germline testing for uveal melanoma
The authors present a study of 114 consecutive patients presenting with uveal melanoma. Between 1 December 2019 and 1 November 2021 all patients over 18-years-old presenting to their centre with uveal melanoma were offered germline testing for variants in BAP1,...
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...
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...
