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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 ...
Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired inflammatory uveitis that belongs to the heterogenous group of white dot syndromes in which light-coloured (yellowish-white) lesions begin to form in the macular area of the retina.
Most cases of heterochromia are hereditary, or caused by genetic factors such as chimerism, and are entirely benign and unconnected to any pathology, however, some are associated with certain diseases and syndromes. Sometimes one eye may change color following disease or injury. [11] [12] [13]
Also known as Shah–Waardenburg syndrome, or Waardenburg–Shah syndrome, type 4 has most of the same features as type 2 (i.e. no telecanthus, or apparent wider eye gap), but with the addition of Hirschsprung's disease, which is a congenital lack of nerves in the intestines leading to bowel dysfunction.
Symptoms include “sensitivity to light, dizziness, pain behind the eyes, nausea, vomiting, and rash,” the CDC says, while more serious disease includes meningitis, encephalitis, and bleeding.
MVD, which is frequently fatal and is related to the much better-known Ebola virus, is sometimes known as "bleeding eye disease" because it damages people's blood vessels, causing them to bleed ...
Köllner's Rule is a term used in ophthalmology and optometry that pertains to the progressive nature of color vision loss that is secondary to eye disease. This rule states that outer retinal diseases and media changes result in blue-yellow color defects, while diseases of the inner retina, optic nerve, visual pathway, and visual cortex will result in red-green defects.