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Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis. [2] [3] [4] PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 ...
Pseudoexfoliation syndrome, often abbreviated as PEX [1] and sometimes as PES or PXS, is an aging-related systemic disease manifesting itself primarily in the eyes which is characterized by the accumulation of microscopic granular amyloid-like protein fibers. [2] Its cause is unknown, although there is speculation that there may be a genetic ...
Angioid streaks are often associated with pseudoxanthoma elasticum, but have been found to occur in conjunction with other disorders, including Paget's disease, sickle cell disease and Ehlers–Danlos syndrome. These streaks can have a negative impact on vision due to choroidal neovascularization or choroidal rupture.
There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
As children affected by GACI due to ABCC6 Deficiency get older, they can develop characteristics similar to pseudoxanthoma elasticum (PXE). This condition affects the elastic tissue of the skin, the eye, cardiovascular and gastrointestinal systems. [7] [8] [9]
This is a partial list of human eye diseases and disorders. The World Health Organization (WHO) publishes a classification of known diseases and injuries, the International Statistical Classification of Diseases and Related Health Problems , or ICD-10.
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Sharon F. Terry (born November 16, 1956) is an American health advocate in San Diego, California.She co-founded PXE International when her children were diagnosed with pseudoxanthoma elasticum (PXE) in 1994. [1]