You searched for "genetic"
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...
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...
Reproductive counselling for females with X-linked inherited retinal diseases
The authors report a survey-based study of 118 female patients who were genetically confirmed carriers or obligate carriers of an X-linked inherited retinal disease. The majority (66.9%) of these patients were carriers of choroideremia; other diagnoses included retinitis pigmentosa, X-linked...
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...
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...UK-EGG Seedcorn award call now open
The UK Eye Genetics Group is now accepting applications for a new Seedcorn Award, offering up to £5,000, to support early career researchers in conducting innovative projects focused on the diagnosis, understanding, prevention, management and treatment of genetic eye diseases....
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...
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...
Difference in retinoblastoma phenotypes based on maternal or paternal inheritance
The aim of this study was to explore the difference in presentation of retinoblastoma between paternal and maternal inheritance. A retrospective medical records review methodology was employed. Records of individuals diagnosed with a retinoblastoma with at least one symptomatic family...
