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Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
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 ...
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a fictional character who exhibited signs of the disease or an actor or subject of a literary allusion, as characteristics associated with them were suggestive of ...
1 in 4,000 people [1] Retinitis pigmentosa ( RP) is a genetic disorder of the eyes that causes loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1] As peripheral vision worsens, people may experience "tunnel vision". [1] Complete blindness is uncommon. [2]
Specialty. Ophthalmology. Coats' disease is a rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina. Coats' disease can also fall under glaucoma. It can have a similar presentation to that of retinoblastoma.
1:30,000 to 1:50,000. Leber's hereditary optic neuropathy ( LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother ...
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 ...
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 ...