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Retinal Vein Occlusions pp 73–93Cite as

Genetics of Retinal Vein Occlusions

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Abstract

The chief risk factors for development of all types of retinal vein occlusions (RVOs) are hypertension, diabetes, hyperlipidemia, and primary open angle glaucoma. However, the relative importance of these factors varies across the types of RVO. Each of these risk factors is a complex trait, determined not only by genetic profiles but also by environmental factors such as diet, smoking, and exercise.23 In addition to these complex traits, much effort has been spent attempting to determine whether there are more direct, independent, heritable risk factors. As a group, those factors are termed thrombophilia. A typical comment about thrombophilia between 1970 and 2000 was, “It should be considered in cases where there is no predisposing cause for thrombosis.”69 Such statements are rare in 2012. Current evidence, while not entirely consistent, indicates that the search for thrombophilia is not likely to be fruitful for any type of RVO. On the other hand, the sizable percentage of patients with RVO but no vascular risk factors and a negative screen for thrombophilia suggests the existence of important, undiscovered genetic mutations associated with thrombophilia.11

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    David J. Browning MD, PhD

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Browning, D.J. (2012). Genetics of Retinal Vein Occlusions. In: Retinal Vein Occlusions. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3439-9_3

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