General
No CPD Points
Course Summary
Professor John Marshall & Bill Harvey (15:27)
Recently, there’s been increasing excitement around the development of DNA testing kits for a range of ocular diseases. Test kits have been developed for specific inherited eye conditions, such as granular corneal dystrophy, as well as to indicate the genetic risk of developing some common multifactorial conditions, such as AMD. Granular corneal dystrophy is an autosomal dominant hereditary disorder with a known inheritance pattern, so a DNA test which can demonstrate the presence of the defective gene is conclusive. People with the defective gene who undergo refractive surgery may develop a rapid deterioration in their corneal health, and the test will help to avoid this. In the case of age-related macular degeneration, however, the genetic risk factors have many variables, meaning that the result of a DNA test is more complicated to interpret. In conversation with Bill Harvey, Professor John Marshall, the Frost Professor of Ophthalmology at the Institute of Ophthalmology, UCL, clarifies exactly how these DNA test kits work, how to interpret the results, and what accurate conclusions ophthalmologists and optometrists can draw from these types of test.
First published in DOCET OQ93 (2015).