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Blue sclera is a condition of the eyes in which the whites of the eyes are a bluish color. This eye condition is a risk factor for many other eye diseases like Marfan's syndrome and pseudoxanthoma elasticum.


Introduction: This information shows the various causes of Blue sclerae, and how common these diseases or conditions are in the general population.This is not a direct indication as to how commonly these diseases are the actual cause of Blue sclerae, but gives a relative idea as to how frequent these diseases are seen overall.. 1 disease that is "rare".


Congenital defects in collagen synthesis cause thinning of the sclera, which causes a bluish hue on examination. These defects include Ehlers-Danlos syndrome, osteogenesis imperfecta and, occasionally, Marfan’s syndrome. Toxicity from systemic medications, topical medications and argyrosis also were considered:


What Causes Blue Sclera? Blue sclera, or a blue tint to the white's of a patient's eyes, can be caused by the disease osteogenesis imperfecta, according to Medline Plus. Osteogenesis imperfect is a congenital disease that is most commonly caused by a defect in the gene that codes for type 1 collagen.


Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them.[ncbi.nlm.nih.gov] The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years. [ncbi.nlm.nih.gov] Her mother appeared small stature, frequent fractures, blue sclera, and deformity of extremities.


Blue sclerae, especially at infancy, is the most visible ocular sign in osteogenesis imperfecta but it is not always present. It is also often present in normal infants. In some patients, it is present early but disappears later in life. Some patients have significantly lower ocular rigidity, corneal diameters, and decreased globe length.


Blue sclerae result from congenital thinning of the sclerae. The underlying epithelium shows through, giving a blue appearance. Blue sclerae are most importantly associated with types I and II osteogenesis imperfecta, the latter of which is fatal and thus not seen in adult practice.


Doctors give trusted, helpful answers on causes, diagnosis, symptoms, treatment, and more: Dr. Grindstaff on causes of yellow eyes in adults: Blue sclerae are most importantly associated with types i and ii osteogenesis imperfecta, the latter of which is fatal and thus not seen in adult practice. Other associations include: ehler's danlos syndrome pseudoxanthoma elasticum marfan's syndrome...


Key symptoms of blue sclera syndrome are: hearing loss, bilateral blue (sometimes blue) coloring of the sclera and increased brittle bones. The most constant and most pronounced sign is the blue-blue color of the sclera, which is observed in 100% of patients with this syndrome.


Blue sclerae are most importantly associated with types I and II osteogenesis imperfecta. Blue sclera may also be associated with: Ehler's danlos syndrome pseudoxanthoma elasticum Marfan's syndrome Blue sclera may also be acquired through long-term use of corticosteroids. There is no specific treatment usually done for blue sclera.