Genetic Testing for Inherited Retinal Disease

Genetic Testing for Inherited Retinal Disease.

The report by Stone et al in this issue (available at www.aaojournal.org/article/S0161-6420(17)30460-8/fulltext;) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD). The new approach to testing involves the use of next-generation sequencing (NGS), a term used to describe a number of different technologies that use a common strategy ...

Genetic testing for inherited heart disease.

M edical conditions that run in a family are inherited or genetic, meaning they are caused by changes in genes that are passed from generation to generation. Many different types of heart disease can be inherited. Some conditions like high blood pressure or coronary artery disease (blockages in the arteries that supply the heart with blood) run in families but probably result from a number of d...

Genetic testing for inherited eye disease.

T he data, devices, and molecular techniques that have become part of the practice of medicine as a result of the Human Genome Project are for most clinicians both inspiring and intimidating. While the potential for tests that can help make very accurate diagnoses of rare genetic diseases and that can identify genetic predispositions to more common ones is exciting, the translation of this conc...

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective

BACKGROUND/AIMS The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. METHODS Telephone questionnaires comprising quantitative and qualitative items were completed with adults...

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.