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Genetic analysis of choroideremia families

Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...

Genetic profiles of primary strabismus

The authors explore the pedigree analysis of familial cases of primary concomitant strabismus (PCS) to unravel the genetic determinants of this strabismus. Of 2301 cases of PCS, 39 (1.7%) had familial clustering. This study recruited 18 families with esotropia and...

Genetic profiling for personalised healthcare solutions in AMD – an update

Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...

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...

Gene Vision launched to support those diagnosed with genetic eye diseases

A new website, Gene Vision (https://gene.vision), has been developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.

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...

Retina UK Annual Conference and AGM 2021

@10:00 – 14:45 BST

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...

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...

Effects of market competition on the price of topical eye drops in the US

The authors retrospectively examined the relationship between the number of Federal Drug Administration (FDA)-approved manufacturers and the price change of generic and branded topical eye medications based on the formulations listed in the FDA Orange Book and the National Average...

Selection of visual field test for detection of pituitary disease

This prospective cross-sectional diagnostic accuracy study compared Octopus semi-automated kinetic perimetry (SKP) and Humphrey static automated central perimetry for detection of neurological visual field loss in patients with pituitary disease. Humphrey central 30-2 SITA threshold programme results were compared with...

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...