Genetic testing for inherited ocular disease: delivering on the promise at last?

Access to files

Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

Abstract

Genetic testing is of increasing clinical utility for diagnosing inherited eye disease. Clarifying a clinical diagnosis is important for accurate estimation of prognosis, facilitating genetic counselling and management of families, and in the future will direct gene-specific therapeutic strategies. Often, precise diagnosis of genetic ophthalmic conditions is complicated by genetic heterogeneity, a difficulty that the so-called 'next generation sequencing' (NGS) technologies promise to overcome. Despite considerable counselling and ethical complexities, NGS offers to revolutionize clinical practice. This will necessitate considerable adjustment to standard practice but has the power to deliver a personalized approach to genomic medicine for many more patients and enhance the potential for preventing vision loss.

Keyword(s)

Genetics; counselling; ethics; inherited eye disease; testing

Bibliographic metadata

Institutional metadata

Record metadata