Moreover, individuals who carry the mutation can pass it on to their offspring.The mutation increases the risk of developing deep vein thrombosis (DVT), which can cause pain and swelling, and sometimes post-thrombotic syndrome, ulcers, or pulmonary embolism. Most individuals do not require treatment but do need to be cautious during periods when the possibility of blood clotting are increased; for example, during pregnancy, after surgery, or during long flights. Occasionally, blood-thinning medication may be indicated to reduce the risk of clotting.Heterozygous carriers who take combined birth control pills are at a 15-fold increased risk of VTE, while carriers also heterozygous with factor V Leiden have an approximate 20-fold higher risk. In a recommendation statement on VTE, genetic testing for G20210A in adults that developed unprovoked VTE was disadvised, as was testing in asymptomatic family members related to G20210A carriers who developed VTE. In those who develop VTE, the results of thrombophilia tests (wherein the variant can be detected) rarely play a role in the length of treatment. Cause
The polymorphism is located in a noncoding region of the prothrombin gene (3 untranslated region nucleotide 20210), replacing guanine with adenine. The position is at or near where the pre-mRNA will have the poly-A tail attached.
Acute zonal occult outer retinopathy (AZOOR) is an inflammatory retinopathy in the category of white dot syndromes typified by acute loss of one or more zones of outer retinal function associated with photopsia, minimal funduscopic changes and abnormal electroretinography findings.This retinal disease was first described by Donald Gass in 1992. Relatively little is known about the condition. Risk factors
Caucasian females in their mid-thirties appear to be most susceptible but the disease may affect anyone regardless of age, sex or race. Pathophysiology
The disease mechanism is unknown but it is believed that it may be caused by a virus, or an auto immune response. References


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