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Genetics and Genomics in Clinical Ophthalmology, I: The Spectrum of Genetic Eye Disease 

Genetics and Genomics in Clinical Ophthalmology, I: The Spectrum of Genetic Eye Disease
Chapter:
Genetics and Genomics in Clinical Ophthalmology, I: The Spectrum of Genetic Eye Disease
Author(s):

Graeme Charles M. Black

DOI:
10.1093/med/9780199896028.003.0040
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date: 06 June 2020

The overall contribution of genetics to the aetiology of all aspects of ophthalmic disease is broader than generally accepted. The management of inherited ophthalmic disease and in particular the introduction of powerful genetic testing strategies and novel therapeutic strategies is an exciting field. It is one that is strongly emotive and has been the subject of considerable publicity. It is an arena that also raises ethical questions for clinicians and scientists alike. While much has been written on the implications of the new genetic knowledge on the diagnosis of genetic conditions, little has been done to apply these to ophthalmology. In future it will be important to recognise that, as these new technologies will have to be applied across many specialties, communication between those working in ophthalmology and other fields will be key. Nonetheless, the hope must be that ophthalmology, which has been at the vanguard of the molecular era, can maintain this pre-eminence in translating these findings for clinical benefit.

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