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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...

Genetic cause for idiopathic foveal hypoplasia

The authors present a small cohort study of 19 patients with idiopathic foveal hypoplasia diagnosed based on optical coherence tomography (OCT) features. Peripheral blood samples from all 19 patients underwent next-generation sequencing and 33 genes known to be involved in...

Healthcare costs of early vs late genetic testing

This is a retrospective observational cohort study of the relative healthcare costs incurred by early vs late genetic testing for inherited retinal diseases in a population of patients from the USA. Three hundred and ten patients with a genetically confirmed...

Limitations of next generation sequencing

This is a report of a young female patient with clinically diagnosed retinitis pigmentosa who underwent genetic testing using an inherited retinal disease panel and whole exome sequencing by next generation sequencing (NGS) technology. This approach did not identify any...

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...

Science maps to outline emerging topics in strabismus

Science maps show the current status of research in a specific field – a form of scientometrics. Co-word analysis is an example of graphic modelling in which keywords are used to study the conceptual structure of a research field. In...

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...

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...

Patient perspectives on inherited retinal diseases

The authors present a qualitative study of patient perspectives on living with inherited retinal diseases based on social media engagement. Social media posts from 6 sites were analysed over a 10-year period. Data was extracted manually by the research team,...