The revolution in molecular genetics and its impact on ophthalmology.
Rapid advances in molecular technology have led to the identification of many genes responsible for inherited disease in ophthalmology. These discoveries also portend an understanding of the pathogenesis of more common ophthalmic disorders which have a genetic component, such as open-angle glaucoma and age-related macular degeneration. This review comprises a summary of these advances in molecular genetics, particularly the contribution of the Human Genome Project; a tabulation of the genes recently proven to be mutated in hereditary ocular conditions; and a discussion of the implications for the practising ophthalmologist.
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Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University, School of Medicine, Baltimore, Maryland 21287, United States of America.
D005128:Eye Diseases / Q000235:genetics*; D016045:Human Genome Project; D006801:Humans; D008967:Molecular Biology / Q000379:methods / Q000639:trends; D009885:Ophthalmology / Q000379:methods*