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Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is ...
H15-H22 Disorders of sclera, cornea, iris and ciliary body. (H15.0) Scleritis — a painful inflammation of the sclera. (H16) Keratitis — inflammation of the cornea. (H16.0) Corneal ulcer / Corneal abrasion — loss of the surface epithelial layer of the eye's cornea. (H16.1) Snow blindness / Arc eye — a painful condition caused by exposure ...
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 basis.
Keratoconus (KC) is a disorder of the eye that results in progressive thinning of the cornea. [3] This may result in blurry vision, double vision, nearsightedness, irregular astigmatism, [4] and light sensitivity leading to poor quality-of-life. [3][5] Usually both eyes are affected. [3] In more severe cases a scarring or a circle may be seen ...
Acanthamoeba keratitis (AK) is a rare disease in which amoebae of the genus Acanthamoeba invade the clear portion of the front (cornea) of the eye. It affects roughly 100 people in the United States each year. [2] Acanthamoeba are protozoa found nearly ubiquitously in soil and water and can cause infections of the skin, eyes, and central ...
One is that Mass Eye and Ear is a specialized eye institute that sees a high number of people with rare eye diseases, so the population may have been a little skewed. Another is that the ...
Heterochromia iridum. Heterochromia is a variation in coloration most often used to describe color differences of the iris, but can also be applied to color variation of hair [1] or skin. Heterochromia is determined by the production, delivery, and concentration of melanin (a pigment). It may be inherited, or caused by genetic mosaicism ...
Follow-up tests revealed Towle had bile duct cancer, also called cholangiocarcinoma, a rare cancer that forms on the network of tubes that link the liver, gallbladder and small intestine ...